{"Name":"Pitt-Hopkins-like syndrome","DiseaseID__c":"GARD:0011967","id":11967,"encodedName":"pitt-hopkins-like-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Pitt-Hopkins-like syndrome","Xref_IDs__c":"C4751168; MEDGEN:1648432; MONDO:0016377","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":1,"Disease_Characteristics_Score__c":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0016377","Disease_Description__c":"Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated.","GARD_Name__c":"Pitt-Hopkins-like syndrome","GARD_Synonym__c":"pthsl","Curated_Disease_Description_Source__c":"MONDO:0016377","Curated_Disease_Description__c":"Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016377","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated.","Curated_Disease_Description_Source__c":"MONDO:0016377","GARD_Synonym__c":"pthsl","Name":"Pitt-Hopkins-like syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Pitt Hopkins Research Foundation","Website__c":"https://pitthopkins.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4751168","Source__c":"C4751168","Xref__c":"C4751168"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1648432","Source__c":"C4751168","Xref__c":"MEDGEN:1648432"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016377","Source__c":"GARD:0011967","Xref__c":"MONDO:0016377"}],"tags":{},"synonyms":["pthsl"]}