Details of Disease

General Information of Disease (ID: DISJRSEA)

• Disease Name: Obsolete craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
• Disease Hierarchy:
  DIS01GPL: Grass pollen hypersensitivity
  DISJRSEA: Obsolete craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DPH1	OT0QU3JY	Strong	Autosomal recessive	[1]

References

• [1] Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities. J Hum Genet. 2018 Apr;63(4):529-532. doi: 10.1038/s10038-017-0399-2. Epub 2018 Jan 23.