{"Name":"Autosomal dominant primary microcephaly","DiseaseID__c":"GARD:0003605","id":3605,"encodedName":"autosomal-dominant-primary-microcephaly","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant primary microcephaly","Xref_IDs__c":"C0220693; C537323; DOID:0061100; DOID:14725; MEDGEN:66319; MONDO:0007988; OMIM:156580; ORPHA:2514","USA_Estimate__c":null,"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":null,"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":3,"Description_Source__c":"MONDO:0007988","Disease_Description__c":"Autosomal dominant form of microcephaly (disease).","GARD_Name__c":"Autosomal dominant primary microcephaly","GARD_Synonym__c":"microcephaly (disease), autosomal dominant; microcephaly with autosomal dominant inheritance","Curated_Disease_Description_Source__c":"MONDO:0007988","Curated_Disease_Description__c":"Autosomal dominant form of microcephaly (disease).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:2514","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0007988","ORPHANET_ID__c":"ORPHA:2514","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Microcefalia primaria autosómica dominante","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"microcefalia primaria autosómica dominante","Spanish_GARD_Synonym__c":null,"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":"Autosomal dominant form of microcephaly (disease).","Curated_Disease_Description_Source__c":"MONDO:0007988","GARD_Synonym__c":"microcephaly (disease), autosomal dominant; microcephaly with autosomal dominant inheritance","Name":"Autosomal dominant primary microcephaly","estimateUsa":""}],"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:2514"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2514"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2514"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0220693"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003605","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537323","Source__c":"MONDO:0007988","Xref__c":"C537323"},{"URL__c":"https://www.orpha.net/en/disease/detail/2514","Source__c":"C0220693; MONDO:0007988","Xref__c":"ORPHA:2514"},{"URL__c":"https://www.omim.org/entry/156580","Source__c":"C0220693; MONDO:0007988; ORPHA:2514","Xref__c":"OMIM:156580"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A14725","Source__c":"MONDO:0007988","Xref__c":"DOID:14725"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0220693","Source__c":"C0220693","Xref__c":"C0220693"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=66319","Source__c":"C0220693","Xref__c":"MEDGEN:66319"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0061100","Source__c":"MONDO:0007988","Xref__c":"DOID:0061100"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007988","Source__c":"GARD:0003605","Xref__c":"MONDO:0007988"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LMNB1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/lmnb1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"DPP6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2514","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000411","HPO_Synonym__c":"Prominent ear; Prominent ears","HPO_Name__c":"Protruding ear","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2514","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:2514","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Esotropia in which either eye may be used for fixation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001137","HPO_Synonym__c":"Alternating cross eyes","HPO_Name__c":"Alternating esotropia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2514","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Nystagmus consisting of horizontal to-and-fro eye movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000666","HPO_Synonym__c":"Nystagmus, horizontal","HPO_Name__c":"Horizontal nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2514","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2514","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The absence of one or more teeth from the normal series by a failure to develop","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009804","HPO_Synonym__c":"Decreased tooth count; Dental agenesis; Failure of development of some teeth; Reduced number of teeth; Teeth, agenesis","HPO_Name__c":"Tooth agenesis","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["microcephaly (disease), autosomal dominant"," microcephaly with autosomal dominant inheritance"]}