{"Name":"Microcephalic primordial dwarfism due to ZNF335 deficiency","DiseaseID__c":"GARD:0017498","id":17498,"encodedName":"microcephalic-primordial-dwarfism-due-to-znf335-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Microcephalic primordial dwarfism due to ZNF335 deficiency","Xref_IDs__c":"724141003; C3554499; DOID:0070294; MEDGEN:767413; MONDO:0014043; OMIM:615095; ORPHA:329228","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":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0014043","Disease_Description__c":"Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.","GARD_Name__c":"Microcephalic primordial dwarfism due to ZNF335 deficiency","GARD_Synonym__c":"microcephalic primordial dwarfism, walsh type; primary autosomal recessive microcephaly 10","Curated_Disease_Description_Source__c":"ORPHA:329228","Curated_Disease_Description__c":"Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, pontocerebellar atrophy, and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, absence of basal ganglia, multiple arthrogryposis, and spastic tetraparesis can also occur.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:329228","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014043","ORPHANET_ID__c":"ORPHA:329228","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Talla baja significativa primordial microcefálica por deficiencia de znf335","Spanish_Description_Source__c":"ORPHA:329228","Spanish_Description__c":"El enanismo microcefálico primordial debido al déficit de ZNF335 se caracteriza por una microencefalia prenatal grave, simplificación de las circunvoluciones cerebrales, agenesia del cuerpo calloso, ausencia de los ganglios basales (muy poco frecuente), atrofia pontocerebelosa y afectación de la sustancia blanca con atrofia cerebral secundaria. Puede darse catarata congénita, atresia de coanas, artrogriposis múltiple y tetraparesia espástica.","Spanish_Disease_Name__c":"talla baja significativa primordial microcefálica por deficiencia de znf335","Spanish_GARD_Synonym__c":"enanismo primordial microcefálico por deficiencia de znf335; enanismo primordial microcefálico tipo walsh","Category_Linearization__c":"ORPHA:93419","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":"Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, pontocerebellar atrophy, and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, absence of basal ganglia, multiple arthrogryposis, and spastic tetraparesis can also occur.","Curated_Disease_Description_Source__c":"ORPHA:329228","GARD_Synonym__c":"microcephalic primordial dwarfism, walsh type; primary autosomal recessive microcephaly 10","Name":"Microcephalic primordial dwarfism due to ZNF335 deficiency","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":"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":"Antenatal","Provided_By__c":"ORPHA:329228"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:329228"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/615095","Source__c":"C3554499; MONDO:0014043; ORPHA:329228","Xref__c":"OMIM:615095"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3554499","Source__c":"C3554499","Xref__c":"C3554499"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070294","Source__c":"MONDO:0014043","Xref__c":"DOID:0070294"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=767413","Source__c":"C3554499","Xref__c":"MEDGEN:767413"},{"URL__c":"https://www.orpha.net/en/disease/detail/329228","Source__c":"C3554499; MONDO:0014043","Xref__c":"ORPHA:329228"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=724141003","Source__c":"MONDO:0014043","Xref__c":"724141003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014043","Source__c":"GARD:0017498","Xref__c":"MONDO:0014043"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ZNF335","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:329228","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of the cerebral cortex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002538","HPO_Synonym__c":"Abnormality of the cerebral cortex","HPO_Name__c":"Abnormal cerebral cortex morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329228","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Partial or complete wasting (loss) of brain tissue that was once present.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012444","HPO_Synonym__c":"Brain degeneration; Brain wasting","HPO_Name__c":"Brain atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329228","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of the cerebellum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001317","HPO_Synonym__c":"Abnormality of the cerebellum; Cerebellar abnormalities; Cerebellar abnormality; Cerebellar anomaly; Cerebellar signs","HPO_Name__c":"Abnormal cerebellum morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329228","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increase in size of the ventricular system of the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002119","HPO_Synonym__c":"Cerebral ventricular dilatation; Dilated cerebral ventricle; Dilated cerebral ventricles; Dilated ventricles; Enlarged cerebral ventricles; Enlarged ventricles; Enlarged ventricular system; Large cerebral ventricles and cisternae; Ventricular dilatation","HPO_Name__c":"Ventriculomegaly","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329228","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of the telencephalon, which is also known as the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002060","HPO_Synonym__c":"Abnormality of the cerebrum; Abnormality of the telencephalon; Cerebral lesion","HPO_Name__c":"Abnormal cerebral morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329228","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A structural anomaly of a neuron. Neurons are electrically excitable cells that transmit signals throughout the body. Neurons employ both electrical and chemical components in the transmission of information. Neurons are connected to other neurons at synapses and connected to effector organs or cells at neuroeffector junctions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012757","HPO_Synonym__c":"Abnormal neuron shape; Abnormal neuronal morphology","HPO_Name__c":"Abnormal neuron morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329228","HPO_Frequency__c":"Very frequent (80-99%)","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:329228","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009879","HPO_Synonym__c":"Cortical gyral simplification","HPO_Name__c":"Simplified gyral pattern","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329228","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced size of the cerebral cortex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002472","HPO_Synonym__c":"Decreased volume of cerebral cortex","HPO_Name__c":"Small cerebral cortex","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":["microcephalic primordial dwarfism, walsh type"," primary autosomal recessive microcephaly 10"]}