Details of Disease

General Information of Disease (ID: DISV92FX)

• Disease Name: Developmental delay with short stature, dysmorphic facial features, and sparse hair 1
• Synonyms: Loucks-Innes syndrome; developmental delay with short stature, dysmorphic facial features, and sparse hair; developmental delay-short stature-dysmorphic features-sparse hair syndrome; DEDSSH1; developmental delay with short stature, dysmorphic features, and sparse hair 1; diphtamide deficiency syndrome
• Definition: Any developmental delay with short stature, dysmorphic facial features, and sparse hair in which the cause of the disease is a mutation in the DPH1 gene.
• Disease Hierarchy:
  DIS34K5T: Developmental delay with short stature, dysmorphic facial features, and sparse hair
  DISV92FX: Developmental delay with short stature, dysmorphic facial features, and sparse hair 1

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] Ovca1 regulates cell proliferation, embryonic development, and tumorigenesis. Genes Dev. 2004 Feb 1;18(3):320-32. doi: 10.1101/gad.1162204. Epub 2004 Jan 26.