Arthrogryposis, distal, with impaired proprioception and touch

Preferred Label : Arthrogryposis, distal, with impaired proprioception and touch;

Symbol : DAIPT;

CISMeF acronym : DAIPT;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the PIEZO-type mechanosensitive ion channel component 2 gene (PIEZO2, 613629.0010);

Prefixed ID : #617146;

Détails

Origin ID

617146;

UMLS CUI

C4310692;

Genes related to phenotype
- Piezo-type mechanosensitive ion channel component 2 [OMIM gene]
HPO term(s)
- Arachnodactyly [HPO term]
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad-based gait [HPO term]
- Camptodactyly [HPO term]
- Delayed ability to walk [HPO term]
- Dysarthria [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Feeding difficulties in infancy [HPO term]
- Flexion contracture [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hip dysplasia [HPO term]
- Inability to walk [HPO term]
- Long nose [HPO term]
- Lower limb muscle weakness [HPO term]
- Motor delay [HPO term]
- Myopathic facies [HPO term]
- Neonatal hypotonia [HPO term]
- Pes planus [HPO term]
- Poor fine motor coordination [HPO term]
- Poor head control [HPO term]
- Progressive [HPO term]
- Respiratory insufficiency [HPO term]
- Sandal gap [HPO term]
- Scoliosis [HPO term]
- Sensory ataxia [HPO term]
- Sensory axonal neuropathy [HPO term]
- Short stature [HPO term]
- Talipes equinovarus [HPO term]
- Thin upper lip vermilion [HPO term]
- Upper limb muscle weakness [HPO term]
- Wide nasal bridge [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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