Trichothiodystrophy 8, nonphotosensitive

Preferred Label : Trichothiodystrophy 8, nonphotosensitive;

Symbol : TTD8;

Type : Phenotype, molecular basis known;

Prefixed ID : #619691;

Details

Origin ID

619691;

UMLS CUI

C5562057;

Genes related to phenotype
- Alanyl-trna synthetase 1 [OMIM gene]
HPO term(s)
- Ankle clonus [HPO term]
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Craniofacial dystonia [HPO term]
- Cutis laxa [HPO term]
- Delayed CNS myelination [HPO term]
- Eczema [HPO term]
- Esodeviation [HPO term]
- Global developmental delay [HPO term]
- Head titubation [HPO term]
- Hypotelorism [HPO term]
- Infantile onset [HPO term]
- Infra-orbital crease [HPO term]
- Jerky ocular pursuit movements [HPO term]
- Long philtrum [HPO term]
- Prominent nose [HPO term]
- Protruding ear [HPO term]
- Retrognathia [HPO term]
- Sparse eyebrow [HPO term]
- Sparse hair [HPO term]
- Spastic diplegia [HPO term]
- Spasticity [HPO term]
- Thin upper lip vermilion [HPO term]
- Trichorrhexis nodosa [HPO term]
- Woolly hair [HPO term]
ORDO concept(s)
- Trichothiodystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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