progressive ataxia absent speech neurodevelopmental disorder with poor growth and dysmorphic facies

Term ID

DOID:0070813

Synonyms

• NEDGSAF

Definition

A syndrome characterized by dysmorphic facies, delayed motor development with ataxic or spastic gait, impaired intellectual development with absent speech, and poor overall growth, including microcephaly and short stature, that has_material_basis_in homozygous mutation in the SEL1L gene on chromosome 14q31. https://pubmed.ncbi.nlm.nih.gov/37943610/

References

• MIM:621067
• UMLS_CUI:C5975594

Ontology

Human Disease   ( DOID:0070813 )