Details of Disease

General Information of Disease (ID: DISBHWAX)

• Disease Name: Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
• Synonyms: IHPRF3; TBCK-related intellectual disability syndrome; hypotonia, infantile, with psychomotor retardation and characteristic facies type 3; hypotonia, infantile, with psychomotor retardation and characteristic facies 3
• Definition: A rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features.
• Disease Hierarchy:
  DISFA88I: Hypotonia, infantile, with psychomotor retardation and characteristic facies
  DISBHWAX: Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
• Disease Identifiers:
  MONDO ID: MONDO_0014823
  UMLS CUI: C5567480
  OMIM ID: 616900
  MedGen ID: 1798903
  Orphanet ID: 488632
  SNOMED CT ID: 1172628002

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
TBCK	OTP38GVK	Strong	Autosomal recessive	[1]

References

• [1] Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy. Am J Hum Genet. 2016 Apr 7;98(4):772-81. doi: 10.1016/j.ajhg.2016.01.016. Epub 2016 Mar 31.