Details of Disease

General Information of Disease (ID: DISIWKCF)

• Disease Name: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
• Synonyms: NMIHBA; neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
• Definition: A rare genetic syndromic intellectual disability characterized by infantile onset of global developmental delay and profound intellectual disability in association with a heterogeneous spectrum of manifestations, such as features of lower motor neuron disease, hypotonia, spasticity, contractures, seizures, respiratory insufficiency, and optic atrophy, among others. Dysmorphic craniofacial features include microcephaly, tall forehead, bitemporal narrowing, flat nasal bridge, low-set ears, and high-arched palate. Brain imaging may show cerebral and cerebellar atrophy, delayed myelination, and thin corpus callosum.
• Disease Hierarchy:
  DISYOKTG: Mendelian neurodevelopmental disorder
  DISIWKCF: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
• Disease Identifiers:
  MONDO ID: MONDO_0060490
  UMLS CUI: C4479566
  OMIM ID: 617481
  MedGen ID: 1380860
  Orphanet ID: 544469
  SNOMED CT ID: 1222657001

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
PRUNE1	OTQ3UHWQ	Strong	Autosomal recessive	[1]

References

• [1] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.