Intellectual disability and myopathy syndrome

Preferred Label : Intellectual disability and myopathy syndrome;

Symbol : IDMYS;

Type : Phenotype, molecular basis known;

Prefixed ID : #619719;

Details

Origin ID

619719;

UMLS CUI

C5676904;

Genes related to phenotype
- Atp-binding cassette, subfamily C, member 9 [OMIM gene]
HPO term(s)
- Achilles tendon contracture [HPO term]
- Anxiety [HPO term]
- Atopic dermatitis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad nasal tip [HPO term]
- Cafe-au-lait spot [HPO term]
- Congenital hip dislocation [HPO term]
- Congenital onset [HPO term]
- Cutis marmorata [HPO term]
- Dental malocclusion [HPO term]
- Esodeviation [HPO term]
- Fatigue [HPO term]
- Flat face [HPO term]
- Food allergy [HPO term]
- Heterotropia [HPO term]
- Hypotelorism [HPO term]
- Hypotonia [HPO term]
- Incisor macrodontia [HPO term]
- Infantile onset [HPO term]
- Left ventricular systolic dysfunction [HPO term]
- Limited elbow extension [HPO term]
- Lower limb hyperreflexia [HPO term]
- Lumbar hyperlordosis [HPO term]
- Nystagmus [HPO term]
- Periventricular white matter hyperintensities [HPO term]
- Postural instability [HPO term]
- Prominent supraorbital ridges [HPO term]
- Scoliosis [HPO term]
- Sleep apnea [HPO term]
- Spotty hypopigmentation [HPO term]
- Thin upper lip vermilion [HPO term]
- Triceps hyperreflexia [HPO term]
- Widely-spaced maxillary central incisors [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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