| HRA007036
(Controlled Access)
|
A four-year old girl with global developmental delay and intellectual disability ,Other clinical features of the patient included sparse hair and craniofacial disorders such as scaphocephaly, prominent forehead, and micrognathia. Whole-exome sequencing was performed for the patient.The patient (proband) carried two mutated alleles of the DPH1 gene: a c.136C>T (p.Q46X) nonsense allele, also present in the mother, and a c.724G>C (p.E242Q) missense allele, also present in the father. |
