Details of Disease

General Information of Disease (ID: DISB78LB)

• Disease Name: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
• Synonyms: seizures, cortical blindness, and microcephaly syndrome; SCBMS; seizures, cortical blindness, microcephaly syndrome
• Definition: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal.
• Disease Hierarchy:
  DISQCXZX: Disorder of development or morphogenesis
  DIS6SVEE: Syndromic disease
  DISYKSRF: Genetic disease
  DISB78LB: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0014714
  UMLS CUI: C5567650
  OMIM ID: 616632
  MedGen ID: 1799073
  Orphanet ID: 477814
  SNOMED CT ID: 1172900005

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
DIAPH1	OTZBYPLH	Strong	Autosomal recessive	[1]

References

• [1] Can fighting worms lower the birth rate?. People. 1976;3(4):22-4.