autosomal recessive intellectual developmental disorder 61

Term ID

DOID:0080239

Synonyms

• Alwadei syndrome
• autosomal recessive intellectual developmental disorder-61
• autosomal recessive mental retardation 61

Definition

An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the RUN and SH3 domain containing 2 gene (RUSC2) on chromosome 9p13. (2)

References

• MIM:617773

Ontology

Human Disease   ( DOID:0080239 )