610954.1

United Arab Emirates

Global developmental delay; Intellectual disability; Seizure; Gastroesophageal reflux; Self-injurious behavior; Dysphagia

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001083962.1:c.947del	1		Pitt-Hopkins Syndrome

Germline mosaicism; Similarly affected siblings