{"Name":"Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome","DiseaseID__c":"GARD:0017840","id":17840,"encodedName":"severe-hypotonia-psychomotor-developmental-delay-strabismus-cardiac-septal-defect-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome","Xref_IDs__c":"C4225196; MEDGEN:902080; MONDO:0014784; OMIM:616816; ORPHA:467176","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":7,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0014784","Disease_Description__c":"Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.","GARD_Name__c":"Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome","GARD_Synonym__c":"hypotonia, infantile, with psychomotor retardation; ihpmr","Curated_Disease_Description_Source__c":"MONDO:0014784","Curated_Disease_Description__c":"Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:467176","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014784","ORPHANET_ID__c":"ORPHA:467176","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome grave de hipotonía-retraso del desarrollo psicomotor-estrabismo-defecto septal cardíaco","Spanish_Description_Source__c":"ORPHA:467176","Spanish_Description__c":"Es una miopatía congénita no distrófica, genética y poco frecuente, caracterizada por el inicio neonatal de hipotonía generalizada grave, leve retraso psicomotor, estrabismo congénito, parálisis del sexto par craneal y comunicación interauricular y/o interventricular. En pacientes varones es muy común la criptorquidia. Por lo general, la biopsia muscular revela aumento de la variabilidad en el tamaño de la fibra muscular.","Spanish_Disease_Name__c":"síndrome grave de hipotonía-retraso del desarrollo psicomotor-estrabismo-defecto septal cardíaco","Spanish_GARD_Synonym__c":null,"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":"Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.","Curated_Disease_Description_Source__c":"MONDO:0014784","GARD_Synonym__c":"hypotonia, infantile, with psychomotor retardation; ihpmr","Name":"Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defec","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Cardiology","Tag_Category__c":"Specialist"},{"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:467176"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/467176","Source__c":"C4225196; MONDO:0014784","Xref__c":"ORPHA:467176"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4225196","Source__c":"C4225196","Xref__c":"C4225196"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=902080","Source__c":"C4225196","Xref__c":"MEDGEN:902080"},{"URL__c":"https://www.omim.org/entry/616816","Source__c":"C4225196; MONDO:0014784; ORPHA:467176","Xref__c":"OMIM:616816"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014784","Source__c":"GARD:0017840","Xref__c":"MONDO:0014784"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CCDC174","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:616816","Feature__r":{"HPO_Description__c":"Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000028","HPO_Synonym__c":"Cryptorchism; Undescended testes; Undescended testis","HPO_Name__c":"Cryptorchidism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616816","Feature__r":{"HPO_Description__c":"A severe degree of muscular hypotonia characterized by markedly reduced muscle tone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006829","HPO_Synonym__c":"Hypotonia, severe; Severely decreased muscle tone","HPO_Name__c":"Severe muscular hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616816","Feature__r":{"HPO_Description__c":"A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003198","HPO_Synonym__c":"Muscle tissue disease; Myopathic changes","HPO_Name__c":"Myopathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616816","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":"OMIM:616816","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":"OMIM:616816","Feature__r":{"HPO_Description__c":"Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001319","HPO_Synonym__c":"Hypotonia, in neonatal onset; Hypotonia, neonatal; Low muscle tone, in neonatal onset","HPO_Name__c":"Neonatal hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616816","Feature__r":{"HPO_Description__c":"A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002058","HPO_Synonym__c":"Myopathic face; Myopathic facial appearance","HPO_Name__c":"Myopathic facies","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616816","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":"OMIM:616816","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006956","HPO_Synonym__c":"Dilatation of lateral cerebral ventricles; Dilation of lateral ventricles; Enlarged lateral ventricles; Lateral ventricle dilatation","HPO_Name__c":"Lateral ventricle dilatation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616816","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":"OMIM:616816","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003557","HPO_Synonym__c":"Increased fiber size variation; Increased variability in muscle fiber size; Increased variation in fiber size; Increased variation in muscle fiber size; Variation in muscle fiber size","HPO_Name__c":"Increased variability in muscle fiber diameter","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616816","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002747","HPO_Synonym__c":"Decreased lung function due to weak breathing muscles; Decreased respiratory function due to muscle weakness; Respiratory distress due to muscle weakness; Respiratory failure due to muscle weakness; Respiratory muscle weakness","HPO_Name__c":"Respiratory insufficiency due to muscle weakness","Feature_System__c":"Musculoskeletal System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616816","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":"OMIM:616816","Feature__r":{"HPO_Description__c":"An abnormal reduction in quantity or strength of fetal movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001558","HPO_Synonym__c":"Decreased fetal activity; Decreased fetal movements; Decreased movement in utero; Dminished fetal movement; Fetal hypokinesia; Less than 10 fetal movements in 12 hours; Reduced fetal movement; Reduced fetal movements","HPO_Name__c":"Decreased fetal movement","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616816","Feature__r":{"HPO_Description__c":"Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward. Patients who develop abducens nerve palsy often present with binocular horizontal diplopia, which is a double vision when looking at objects side by side. There will be a notable weakness of the ipsilateral lateral rectus muscle leading to a deficit in of eye abduction on the affected side. Some patients may present with a constant head turning movement to maintain binocular fusion and to lessen the degree of diplopia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006897","HPO_Synonym__c":"Abducens nerve palsy; Abducens nerve paralysis; Abducens nerve paresis; Cranial nerve VI palsy; Lateral rectus muscle denervation paresis; Sixth nerve palsy","HPO_Name__c":"Abducens palsy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616816","Feature__r":{"HPO_Description__c":"A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001629","HPO_Synonym__c":"Hole in heart wall separating two lower heart chambers; Ventricular septal defects; Ventriculoseptal defect; VSD","HPO_Name__c":"Ventricular septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616816","Feature__r":{"HPO_Description__c":"Underdevelopment of the corpus callosum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002079","HPO_Synonym__c":"Corpus callosum hypoplasia; Hypoplasia of corpus callosum; Hypoplastic corpus callosum; Underdevelopment of part of brain called corpus callosum","HPO_Name__c":"Hypoplasia of the corpus callosum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Cardiology","Neurology","Ophthalmology","Neuro-Ophthalmology","Neuromuscular medicine","Pediatrics"]},"synonyms":["hypotonia, infantile, with psychomotor retardation"," ihpmr"]}