{"Name":"Asxl3-related disorder","DiseaseID__c":"GARD:0013259","id":13259,"encodedName":"asxl3-related-disorder","IsDeleted":false,"Disease_Name_Full__c":"Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome","Xref_IDs__c":"423022112; C4750837; DOID:0080893; MEDGEN:1656239; MONDO:0014205; OMIM:615485; ORPHA:352577","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"ORPHA:352577","Disease_Description__c":"A rare, genetic, syndromic intellectual disability disorder with a variable phenotypic presentation typically characterized by microcephaly, severe feeding difficulties, failure to thrive, severe global development delay that frequently results in absent/poor speech, moderate to severe intellectual disability and hypotonia. Distinctive craniofacial features include prominent forehead, high-arched, thin eyebrows, hypertelorism, downslanting palpebral fissures, long, tubular nose with broad tip and prominent nasal bridge and wide mouth with full, everted lower lip. Joint laxity and ulnar deviation of wrists are also frequently observed.","GARD_Name__c":"Asxl3-related disorder","GARD_Synonym__c":"bainbridge ropers syndrome; bainbridge-ropers syndrome; brps; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome; severe feeding difficulties, failure to thrive, microcephaly due to asxl transcriptional regulator 3 deficiency syndrome; severe feeding difficulties, failure to thrive, microcephaly due to asxl3 deficiency syndrome","Curated_Disease_Description_Source__c":null,"Curated_Disease_Description__c":"ASXL3-Related Disorder is a rare genetic disorder that affects a person's ability to learn and grow. People with this syndrome may present with a small head (microcephaly), severe feeding difficulties, and may not grow as quickly as others. They often have severe global developmental delay which may result in speech delays, intellectual disability, and decreased muscle tone (hypotonia). People with this disorder usually have a large forehead, thin eyebrows, wide-set eyes, a long nose, and a wide mouth with a full lower lip. They may also have loose joints and wrists that bend inwards.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:352577","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014205","ORPHANET_ID__c":"ORPHA:352577","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de bainbridge-ropers","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de bainbridge-ropers","Spanish_GARD_Synonym__c":"síndrome de dificultades graves en la alimentación-fallo de medro-microcefalia por deficiencia de asxl3","Category_Linearization__c":"ORPHA:93890","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":"ASXL3-Related Disorder is a rare genetic disorder that affects a person's ability to learn and grow. People with this syndrome may present with a small head (microcephaly), severe feeding difficulties, and may not grow as quickly as others. They often have severe global developmental delay which may result in speech delays, intellectual disability, and decreased muscle tone (hypotonia). People with this disorder usually have a large forehead, thin eyebrows, wide-set eyes, a long nose, and a wide mouth with a full lower lip. They may also have loose joints and wrists that bend inwards.","GARD_Synonym__c":"bainbridge ropers syndrome; bainbridge-ropers syndrome; brps; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome; severe feeding difficulties, failure to thrive, microcephaly due to asxl transcriptional regulator 3 deficiency syndrome; severe feeding difficulties, failure to thrive, microcephaly due to asxl3 deficiency syndrome","Name":"Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficien","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Unique","Website__c":"https://rarechromo.org/"},{"Account_Name__c":"Simons Searchlight","Website__c":"https://www.simonssearchlight.org/"},{"Account_Name__c":"ASXL Rare Research Endowment Foundation","Website__c":"https://www.arrefoundation.org/"}],"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"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":"Neonatal","Provided_By__c":"ORPHA:352577"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:352577"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:352577"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0013259","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK563693","Source__c":"Gene Review","Xref__c":"NBK563693"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1656239","Source__c":"C4750837","Xref__c":"MEDGEN:1656239"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4750837","Source__c":"C4750837","Xref__c":"C4750837"},{"URL__c":"https://www.orpha.net/en/disease/detail/352577","Source__c":"C4750837; MONDO:0014205; ORPHA:352577","Xref__c":"ORPHA:352577"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080893","Source__c":"MONDO:0014205","Xref__c":"DOID:0080893"},{"URL__c":"https://www.omim.org/entry/615485","Source__c":"C4750837; MONDO:0014205; ORPHA:352577","Xref__c":"OMIM:615485"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=773400009","Source__c":"C4750837","Xref__c":"773400009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014205","Source__c":"GARD:0013259","Xref__c":"MONDO:0014205"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022112","Xref__c":"423022112"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ASXL3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:352577","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:352577","HPO_Frequency__c":"Frequent (30-79%)","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:352577","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001763","HPO_Synonym__c":"Flat feet; Flat foot","HPO_Name__c":"Pes planus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352577","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352577","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Changes in alignment of teeth in the dental arch","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000678","HPO_Synonym__c":"Crowded teeth; Dental crowding; Dental overcrowding; Overcrowding of teeth","HPO_Name__c":"Dental crowding","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352577","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally long and slender fingers (spider fingers).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001166","HPO_Synonym__c":"Long slender fingers; Long, slender fingers; Spider fingers","HPO_Name__c":"Arachnodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352577","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000582","HPO_Synonym__c":"Mongoloid slant; Upslanting palpebral fissures; Upward slanted palpebral fissures; Upward slanting of palpebral fissures; Upward slanting of the opening between the eyelids; Upward slanting palpebral fissures","HPO_Name__c":"Upslanted palpebral fissure","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352577","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the skeletal system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000924","HPO_Synonym__c":"Abnormality of the skeletal system; Skeletal abnormalities; Skeletal anomalies","HPO_Name__c":"Abnormality of the skeletal system","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352577","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352577","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Forward prominence of the entire forehead, due to protrusion of the frontal bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011220","HPO_Synonym__c":"Prominence of frontal region; Prominent forehead; Pronounced forehead; Protruding forehead","HPO_Name__c":"Prominent forehead","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352577","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Floppiness/hypotonia is defined as reduced resistance to passive movement of joints. Physical examination of floppy/hypotonic infants shows head lag, lack of shoulder and elbow muscle contraction on traction response, inability to tighten the shoulder girdle muscles (or slipping through) when held under the axillae, scarf sign (when the arm is pulled to the opposite side, the arm wraps around the neck with the elbow crossing midline), hyperdorsiflexion of the feet, easy apposition of the thumb against the forearm, feet touching the cheek with ease and without discomfort, frog leg position, and inverted U sign on ventral suspension (head, arms, and legs hanging down without elbow or knee flexion and the trunk rounded in a dome shape).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008947","HPO_Synonym__c":"Decreased muscle tone in infant; Hypotonia early; Hypotonia in infancy; Hypotonia, early; Infantile hypotonia; Infantile muscular hypotonia","HPO_Name__c":"Floppy infant","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352577","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A facial appearance characterized by a permanently or nearly permanently opened mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000194","HPO_Synonym__c":"Gaped jawed appearance; Gaped mouthed appearance; Open mouth; Slack jawed appearance","HPO_Name__c":"Open mouth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352577","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000232","HPO_Synonym__c":"Drooping lower lip; Eclabium of lower lip; Everted lower lip; Everted prominent lower lip; Outward turned lower lip","HPO_Name__c":"Everted lower lip vermilion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352577","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003189","HPO_Synonym__c":"Elongated nose; Increased height of nose; Increased length of nose; Increased nasal height; Increased nasal length; Long nose; Nasal elongation","HPO_Name__c":"Long nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352577","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Columella extending inferior to the level of the nasal base, when viewed from the side.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009765","HPO_Synonym__c":"Columella, low; Columella, low hanging; Extension of the columella below the ala nasi; Low-hanging columella","HPO_Name__c":"Low hanging columella","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352577","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:352577","HPO_Frequency__c":"Occasional (5-29%)","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:352577","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Incapability to ambulate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002540","HPO_Synonym__c":"Inability to walk; Non-ambulatory","HPO_Name__c":"Inability to walk","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352577","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality in the sound (volume) or cadence (rate) of speech.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002167","HPO_Synonym__c":"Abnormal speech; Abnormal vocalization; Abnormality of speech or vocalization","HPO_Name__c":"Abnormal speech pattern","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352577","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Profound intellectual disability (ID) is defined as a type of ID characterized by profoundly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) below 20.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002187","HPO_Synonym__c":"Intellectual disability, profound; IQ less than 20; Mental retardation, profound; Profound mental retardation","HPO_Name__c":"Profound intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352577","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Anterior positioning of the nasal root in comparison to the usual positioning for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000426","HPO_Synonym__c":"Elevated nasal bridge; High nasal bridge; Prominent bridge of nose; Prominent nasal bridge; Prominent nasal root; Protruding bridge of nose; Protruding nasal bridge","HPO_Name__c":"Prominent nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352577","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a high and narrow palate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002705","HPO_Synonym__c":"Gothic palate; High narrow palate; High vaulted palate; High, narrow palate; Narrow and high arched palate; Narrow, high-arched palate; Narrow, high-arched roof of mouth; Narrow, highly arched palate; Narrow, highly arched roof of mouth","HPO_Name__c":"High, narrow palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352577","HPO_Frequency__c":"Occasional (5-29%)","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:352577","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002553","HPO_Synonym__c":"Arched eyebrows; Broad, arched eyebrows; High, rounded eyebrows; High-arched eyebrows; Highly arched eyebrow; Thick, flared eyebrows","HPO_Name__c":"Highly arched eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352577","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004673","HPO_Synonym__c":"Decreased facial expression","HPO_Name__c":"Decreased facial expression","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352577","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the vermis of cerebellum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001320","HPO_Synonym__c":"Cerebellar vermal hypoplasia; Hypoplasia of the cerebellar vermis; Hypoplastic cerebellar vermis","HPO_Name__c":"Cerebellar vermis hypoplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352577","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000316","HPO_Synonym__c":"Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance","HPO_Name__c":"Hypertelorism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352577","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:352577","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352577","HPO_Frequency__c":"Very frequent (80-99%)","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:352577","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001276","HPO_Synonym__c":"Hypertonicity; Increased muscle tone","HPO_Name__c":"Hypertonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352577","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased volume and globular shape of the anteroinferior aspect of the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000414","HPO_Synonym__c":"Bulbous nose","HPO_Name__c":"Bulbous nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352577","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Thinned, deficient, or excessively arched ala nasi.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000430","HPO_Synonym__c":"Ala nasi, underdeveloped; Alar cartilage hypoplasia; Decreased size of nasal alae; Hypoplastic alae nasae; Hypoplastic alae nasi; Hypoplastic alar cartilage; Hypoplastic alar nasae; Hypoplastic nares; Hypoplastic nasal alae; Hypoplastic nasal wings; Hypoplastic nostrils; Nasal cartilage hypoplasia; Small nasal alae; Thin hypoplastic alae nasi; Underdeveloped tissue around nostril","HPO_Name__c":"Underdeveloped nasal alae","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352577","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001519","HPO_Synonym__c":"Dolichostenomelia; Marfanoid body habitus; Marfanoid habitus; Reduced upper-lower segment ratio","HPO_Name__c":"Disproportionate tall stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352577","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:352577","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000268","HPO_Synonym__c":"Long, narrow head; Tall and narrow skull","HPO_Name__c":"Dolichocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352577","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the cerebral white matter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002500","HPO_Synonym__c":"Abnormality of subcortical white matter; Abnormality of the cerebral white matter; Cerebral white matter abnormalities; Leukoaraiosis; White matter abnormalities; White matter alterations","HPO_Name__c":"Abnormal cerebral white matter morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352577","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Meeting of the medial eyebrows in the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000664","HPO_Synonym__c":"Monobrow; Synophris; Unibrow","HPO_Name__c":"Synophrys","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352577","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The palpebral fissure inclination is more than two standard deviations below the mean.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000494","HPO_Synonym__c":"Antimongoloid eye slant; Antimongoloid slant of palpebral fissures; Antimongoloid slanted palpebral fissures; Down slanting palpebral fissures; Down-slanted palpebral fissures; Down-slanting palpebral fissure; Down-slanting palpebral fissures; Downslanting palpebral fissure; Downslanting palpebral fissures; Downward slanted palpebral fissures; Downward slanting of the opening between the eyelids; Downward slanting palpebral fissures; Downward-slanting palpebral fissures; Palpebral fissures down-slanted","HPO_Name__c":"Downslanted palpebral fissures","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352577","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:352577","HPO_Frequency__c":"Frequent (30-79%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["bainbridge ropers syndrome"," bainbridge-ropers syndrome"," brps"," Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome"," severe feeding difficulties, failure to thrive, microcephaly due to asxl transcriptional regulator 3 deficiency syndrome"," severe feeding difficulties, failure to thrive, microcephaly due to asxl3 deficiency syndrome"]}