Charcot-marie-tooth disease, axonal, type 2hh

Preferred Label : Charcot-marie-tooth disease, axonal, type 2hh;

Symbol : CMT2HH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Charcot-marie-tooth neuropathy, type 2hh;

Prefixed ID : #619574;

Details

Origin ID

619574;

UMLS CUI

C5562003;

Genes related to phenotype
- Jagged 1 [OMIM gene]
HPO term(s)
- Areflexia of lower limbs [HPO term]
- Areflexia of upper limbs [HPO term]
- Autosomal dominant inheritance [HPO term]
- Centrally nucleated skeletal muscle fibers [HPO term]
- Childhood onset [HPO term]
- Clubbing of fingers [HPO term]
- Congenital onset [HPO term]
- Delayed ability to walk [HPO term]
- Distal muscle weakness [HPO term]
- Dysphagia [HPO term]
- Edema [HPO term]
- Fasciculations [HPO term]
- First dorsal interossei muscle weakness [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Hypotonia [HPO term]
- Impaired distal vibration sensation [HPO term]
- Impaired pain sensation [HPO term]
- Impaired tandem gait [HPO term]
- Impaired temperature sensation [HPO term]
- Intrinsic hand muscle atrophy [HPO term]
- Kyphoscoliosis [HPO term]
- Migraine [HPO term]
- Night sweats [HPO term]
- Pes cavus [HPO term]
- Polyminimyoclonus [HPO term]
- Scoliosis [HPO term]
- Stridor [HPO term]
- Tremor [HPO term]
- Triceps weakness [HPO term]
- Vocal cord paresis [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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