Details of Disease

General Information of Disease (ID: DISGM81U)

• Disease Name: Developmental delay with autism spectrum disorder and gait instability
• Synonyms: MRT38; intellectual disability, autosomal recessive 38; mental retardation, autosomal recessive 38; intellectual disability, autosomal recessive type 38; developmental delay with ASD and gait instability; intellectual developmental disorder, autosomal recessive 38; mental retardation, autosomal recessive type 38
• Definition: Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior.
• Disease Hierarchy:
  DISYOKTG: Mendelian neurodevelopmental disorder
  DISGM81U: Developmental delay with autism spectrum disorder and gait instability
• Disease Identifiers:
  MONDO ID: MONDO_0014224
  UMLS CUI: C3809753
  OMIM ID: 615516
  MedGen ID: 816083
  Orphanet ID: 329195

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CRBN	TTDKGTC	Strong	Biomarker	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HERC2	OTNQYKOB	Strong	Autosomal recessive	[2]

References

• [1] Rescue of Learning and Memory Deficits in the Human Nonsyndromic Intellectual Disability Cereblon Knock-Out Mouse Model by Targeting the AMP-Activated Protein Kinase-mTORC1 Translational Pathway.J Neurosci. 2018 Mar 14;38(11):2780-2795. doi: 10.1523/JNEUROSCI.0599-17.2018. Epub 2018 Feb 19.
• [2] Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality. J Med Genet. 2021 May;58(5):334-341. doi: 10.1136/jmedgenet-2020-106873. Epub 2020 Jun 22.