{"Name":"Intellectual disability, autosomal dominant 5","DiseaseID__c":"GARD:0012558","id":12558,"encodedName":"intellectual-disability-autosomal-dominant-5","IsDeleted":false,"Disease_Name_Full__c":"Intellectual disability, autosomal dominant 5","Xref_IDs__c":"C178414; C2675473; C567234; DOID:0070035; MEDGEN:382611; MONDO:0012960; OMIM:612621; ORPHA:544254","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0012960","Disease_Description__c":"Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the SYNGAP1 gene.","GARD_Name__c":"Intellectual disability, autosomal dominant 5","GARD_Synonym__c":"autosomal dominant intellectual disability 5; autosomal dominant non-syndromic intellectual disability caused by mutation in syngap1; epilepsy due to syngap mutations; intellectual developmental disorder, autosomal dominant 5; intellectual disability, autosomal dominant type 5; mrd5; syngap1 autosomal dominant non-syndromic intellectual disability; syngap1-related developmental and epileptic encephalopathy","Curated_Disease_Description_Source__c":"GARD:0012558","Curated_Disease_Description__c":"SYNGAP1-related intellectual disability is a neurological disorder characterized by moderate to severe intellectual disability that is evident in early childhood. The earliest features are typically delayed development of speech and motor skills, such as sitting, standing, and walking. Many people with this condition have weak muscle tone (hypotonia), which contributes to the difficulty with motor skills. Some affected individuals lose skills they had already acquired (developmental regression). Other features of SYNGAP1-related intellectual disability include recurrent seizures (epilepsy), hyperactivity, and autism spectrum disorder, which is characterized by impaired communication and social interaction; almost everyone with SYNGAP1-related intellectual disability develops epilepsy, and about half have autism spectrum disorder.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"OMIM:612621","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012960","ORPHANET_ID__c":"ORPHA:544254","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Encefalopatía epiléptica y del desarrollo asociada a syngap1","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"encefalopatía epiléptica y del desarrollo asociada a syngap1","Spanish_GARD_Synonym__c":"dee asociada a syngap1","Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"SYNGAP1-related intellectual disability is a neurological disorder characterized by moderate to severe intellectual disability that is evident in early childhood. The earliest features are typically delayed development of speech and motor skills, such as sitting, standing, and walking. Many people with this condition have weak muscle tone (hypotonia), which contributes to the difficulty with motor skills. Some affected individuals lose skills they had already acquired (developmental regression). Other features of SYNGAP1-related intellectual disability include recurrent seizures (epilepsy), hyperactivity, and autism spectrum disorder, which is characterized by impaired communication and social interaction; almost everyone with SYNGAP1-related intellectual disability develops epilepsy, and about half have autism spectrum disorder.","Curated_Disease_Description_Source__c":"GARD:0012558","GARD_Synonym__c":"autosomal dominant intellectual disability 5; autosomal dominant non-syndromic intellectual disability caused by mutation in syngap1; epilepsy due to syngap mutations; intellectual developmental disorder, autosomal dominant 5; intellectual disability, autosomal dominant type 5; mrd5; syngap1 autosomal dominant non-syndromic intellectual disability; syngap1-related developmental and epileptic encephalopathy","Name":"Intellectual disability, autosomal dominant 5","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"RASopathies Network","Website__c":"https://rasopathiesnet.org/"},{"Account_Name__c":"Simons Searchlight","Website__c":"https://www.simonssearchlight.org/"},{"Account_Name__c":"Cure SYNGAP1","Website__c":"https://curesyngap1.org/"},{"Account_Name__c":"SYNGAP1 Foundation","Website__c":"https://syngap1foundation.org/"},{"Account_Name__c":"SynGAP Research Fund","Website__c":"https://www.syngapresearchfund.com/"},{"Account_Name__c":"Syngap Global Network","Website__c":"https://www.syngapglobal.net/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:544254"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2675473"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012558","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK537721","Source__c":"Gene Review","Xref__c":"NBK537721"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567234","Source__c":"MONDO:0012960","Xref__c":"C567234"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=382611","Source__c":"C2675473","Xref__c":"MEDGEN:382611"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2675473","Source__c":"C2675473","Xref__c":"C2675473"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070035","Source__c":"MONDO:0012960","Xref__c":"DOID:0070035"},{"URL__c":"https://www.omim.org/entry/612621","Source__c":"C2675473; MONDO:0012960; ORPHA:544254","Xref__c":"OMIM:612621"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C178414","Source__c":"C2675473","Xref__c":"C178414"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012960","Source__c":"GARD:0012558","Xref__c":"MONDO:0012960"},{"URL__c":"https://medlineplus.gov/genetics/condition/syngap1-related-intellectual-disability","Source__c":"GARD:0012558","Xref__c":"https://medlineplus.gov/genetics/condition/syngap1-related-intellectual-disability"},{"URL__c":"https://www.orpha.net/en/disease/detail/544254","Source__c":"MONDO:0012960","Xref__c":"ORPHA:544254"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SYNGAP1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/syngap1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:544254","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of developmental skills, as manifested by loss of developmental milestones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002376","HPO_Synonym__c":"Loss of acquired milestones; Loss of developmental milestones; Loss of milestones; Mental deterioration in childhood; Neurodevelopmental regression; Psychomotor regression; Psychomotor regression beginning in infancy; Psychomotor regression in infants; Psychomotor regression, progressive","HPO_Name__c":"Developmental regression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:544254","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:544254","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterized by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011150","HPO_Synonym__c":"Myoclonic absence; Myoclonic absences","HPO_Name__c":"Myoclonic absence seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:544254","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:544254","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:544254","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:544254","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Moderate intellectual disability (ID) is defined as a type of ID characterized by moderately sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 35-49.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002342","HPO_Synonym__c":"Intellectual disability, moderate; IQ between 34 and 49; Mental retardation, moderate; Moderate mental deficiency; Moderate mental retardation","HPO_Name__c":"Moderate intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:544254","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000729","HPO_Synonym__c":"ASD; Pervasive developmental disorder","HPO_Name__c":"Autistic behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:544254","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of repetitive behavior in which the affected individual repeatedly waves the hands and/or arms rhythmically.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100023","HPO_Name__c":"Recurrent hand flapping","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:544254","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduced ability to participate in the back-and-forth flow of social interaction appropriate to culture and developmental level, which is normally characterized by an influence of the behavior of one person on the behavior of another person. This results in difficulty interacting with others through emotional, physical, or verbal communication.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012760","HPO_Synonym__c":"Impaired social interaction; Impaired social interactions; Impaired social reciprocity; Poor social interactions","HPO_Name__c":"Reduced social responsiveness","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:544254","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:544254","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Severe intellectual disability (ID) is defined as a type of ID characterized by severely sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 20-34.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010864","HPO_Synonym__c":"Early and severe mental retardation; Intellectual disability, severe; Mental retardation, severe; Severe mental retardation","HPO_Name__c":"Severe intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:544254","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:544254","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unintentional, oscillating to-and-fro muscle movement about a joint axis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001337","HPO_Synonym__c":"Tremor; Tremors","HPO_Name__c":"Tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:544254","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal eating habits involve excessive or insufficient consumption of food, or any other abnormal pattern of food consumption.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100738","HPO_Synonym__c":"Abnormal eating behavior","HPO_Name__c":"Abnormal eating behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:544254","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010832","HPO_Name__c":"Abnormality of pain sensation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:544254","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000047","HPO_Synonym__c":"Hypospadia","HPO_Name__c":"Hypospadias","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:544254","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002197","HPO_Synonym__c":"Generalized onset seizure; Generalized seizures; Generalized-onset seizures; Primary generalized seizure","HPO_Name__c":"Generalized-onset seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:544254","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000276","HPO_Synonym__c":"Elongation of face; Increased height of face; Increased length of face; Increased vertical dimension of face; Long face; Long facies; Vertical elongation of face; Vertical enlargement of face; Vertical excess of face; Vertical Facial Excess; Vertical hyperplasia of face; Vertical overgrowth of face","HPO_Name__c":"Long face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:544254","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal pattern in the quality, quantity, or characteristics of sleep.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002360","HPO_Synonym__c":"Difficulty sleeping; Sleep abnormality; Sleep disturbances; Sleep dysfunction; Sleep-wake disturbance; Trouble sleeping","HPO_Name__c":"Sleep disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:544254","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000218","HPO_Synonym__c":"Elevated palate; High arched palate; High palate; High, arched palate; High-arched palate; Increased palatal height; Palate high-arched; Palate, high-arched","HPO_Name__c":"High palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:544254","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000708","HPO_Synonym__c":"Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral symptoms; Behavioral/psychiatric abnormalities; Behavioural symptoms; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances","HPO_Name__c":"Atypical behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:544254","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000160","HPO_Synonym__c":"Microstomia; Narrow mouth; Small mouth; Small oral aperture","HPO_Name__c":"Narrow mouth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:544254","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Complete lack of development of speech and language abilities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001344","HPO_Synonym__c":"Absent speech development; Lack of language development; Lack of speech; No speech development; No speech or language development; Nonverbal","HPO_Name__c":"Absent speech","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:544254","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040080","HPO_Name__c":"Anteverted ears","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:544254","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any functional anomaly of the tongue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030810","HPO_Name__c":"Abnormal tongue physiology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:544254","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008872","HPO_Name__c":"Feeding difficulties in infancy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:544254","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A seizure precipitated by aspects of anticipating food, eating itself, or the post-prandial period.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020208","HPO_Name__c":"Eating-induced seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:544254","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002465","HPO_Synonym__c":"Poor speech","HPO_Name__c":"Poor speech","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:544254","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000992","HPO_Synonym__c":"Photosensitive skin; Photosensitive skin rashes; Photosensitivity; Sensitivity to sunlight; Skin photosensitivity; Sun sensitivity","HPO_Name__c":"Cutaneous photosensitivity","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:544254","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A degree of language development that is significantly below the norm for a child of a specified age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000750","HPO_Synonym__c":"Deficiency of speech development; Delayed language development; Delayed speech; Delayed speech acquisition; Delayed speech and language development; Delayed speech development; Impaired speech and language development; Impaired speech development; Language delay; Language delayed; Language development deficit; Late-onset speech development; Poor language development; Speech and language delay; Speech and language difficulties; Speech delay","HPO_Name__c":"Delayed speech and language development","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:544254","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An eye that is more deeply recessed into the plane of the face than is typical.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000490","HPO_Synonym__c":"Deep set eye; Deep-set eyes; Deeply set eye; Enophthalmos; Ocular depression; Sunken eye; Sunken eyes","HPO_Name__c":"Deeply set eye","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:544254","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000233","HPO_Synonym__c":"Decreased volume of lip; Decreased volume of lip vermillion; Thin lips; Thin vermillion","HPO_Name__c":"Thin vermilion border","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:544254","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100259","HPO_Synonym__c":"Polydactyly, postaxial; Postaxial hexadactyly","HPO_Name__c":"Postaxial polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:544254","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008770","HPO_Synonym__c":"Obsessive-compulsive trait; Obsessive-compulsive traits","HPO_Name__c":"Obsessive-compulsive trait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:544254","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal morphology (form) of the face or its components.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001999","HPO_Synonym__c":"Abnormal facial shape; Abnormal morphology of the face; Distinctive facies; Dysmorphic facial features; Dysmorphic facies; Facial dysmorphism; Unusual facial appearance; Unusual facies","HPO_Name__c":"Abnormal facial shape","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:544254","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000400","HPO_Synonym__c":"Large ears; Large pinnae","HPO_Name__c":"Macrotia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:544254","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012703","HPO_Synonym__c":"Abnormality of the subarachnoid space","HPO_Name__c":"Abnormal subarachnoid space morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:544254","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000154","HPO_Synonym__c":"Broad mouth; Large mouth; Large oral aperture; Macrostomia; Wide mouth","HPO_Name__c":"Wide mouth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:544254","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000325","HPO_Synonym__c":"Face with broad temples and narrow chin; Inverted triangular face; Triangular face; Triangular facial shape; Triangular facies","HPO_Name__c":"Triangular face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:544254","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A deficit in coordination of muscle movements. Coordination is defined as the orchestrated movement of multiple body parts as required to accomplish intended actions, like walking.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002311","HPO_Synonym__c":"Difficulties in coordination; Incoordination; Incoordination of limb movements; Limb incoordination; Poor coordination; Poor motor coordination","HPO_Name__c":"Incoordination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["autosomal dominant intellectual disability 5"," autosomal dominant non-syndromic intellectual disability caused by mutation in syngap1"," epilepsy due to syngap mutations"," intellectual developmental disorder, autosomal dominant 5"," intellectual disability, autosomal dominant type 5"," mrd5"," syngap1 autosomal dominant non-syndromic intellectual disability"," syngap1-related developmental and epileptic encephalopathy"]}