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Pitt-Hopkins syndrome

Disease Summary
Associated Targets (4)
Tbio

4


GARD Rare
Mondo Description Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.
Uniprot Description A syndrome characterized by mental retardation, wide mouth and distinctive facial features, and intermittent hyperventilation followed by apnea. Features include intellectual disability with severe speech impairment, normal growth parameters at birth, postnatal microcephaly, breathing anomalies, severe motor developmental delay, motor incoordination, ocular anomalies, constipation, seizures, typical behavior and subtle brain abnormalities.
Disease Ontology Description A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features. It has material basis in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21.
Mondo Term and Equivalent IDs
MONDO:0012589:  Pitt-Hopkins syndrome
GARD:0004372: 
MESH:C537403: 
NCIT:C129872: 
Orphanet:2896: 
SCTID:702344008: 
UMLS:C1970431: