Visualize Submit Comment

Metadata
ID	DOID:0061023
Name	nonphotosensitive trichothiodystrophy 8
Definition	A nonphotosensitive trichothiodystrophy that is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay that has_material_basis_in compound heterozygous mutation in the AARS1 gene on chromosome 16q22. https://pubmed.ncbi.nlm.nih.gov/33909043/
Xrefs	MIM:619691
Synonyms	TTD8 [EXACT]
Parent Relationships	is_a nonphotosensitive trichothiodystrophy is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance