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

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Disease Ontology Browser

progressive ataxia absent speech neurodevelopmental disorder with poor growth and dysmorphic facies (DOID:0070813)
Alliance: disease page
Synonyms: NEDGSAF
Alt IDs: OMIM:621067, UMLS_CUI:C5975594
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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