The Pitt-Hopkins syndrome is characterized by mental retardation, wide mouth and distinctive facial features, and intermittent hyperventilation followed by apnea. [From OMIM]
Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal dominant
18q21.2
The Pitt-Hopkins syndrome is characterized by mental retardation, wide mouth and distinctive facial features, and intermittent hyperventilation followed by apnea. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 610954.1 | United Arab Emirates | Male | Yes | Yes | Global developmental delay; Intellectual... Global developmental delay; Intellectual disability; Seizure; Gastroesophageal reflux; Self-injurious behavior; Dysphagia  | NM_001083962.1:c.947del | Heterozygous | Autosomal, Dominant | Saleh et al. 2021 | Germline mosaicism; ... |
Inati et al (2012) described a 2.5 year old boy with psychomotor retardation, recurrent respiratory tract infections, and dysmorphic features. Pitt-Hopkins Syndrome was vconfirmed based on the clinical features and the deletion of one copy of the TCF4 gene.