Wieacker-wolff syndrome, female-restricted

Preferred Label : Wieacker-wolff syndrome, female-restricted;

Symbol : WRWFFR;

CISMeF acronym : WRWFFR;

Type : Phenotype, molecular basis known;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the zinc finger C4H2 domain-containing protein gene (ZC4H2, 300897.0008);

Laboratory abnormalities : Skewed X-inactivation may be observed in lymphocytes or fibroblasts;

Prefixed ID : #301041;

Details

Origin ID

301041;

UMLS CUI

C5393303;

Currated CISMeF NLP mapping
- Female-Restricted Wieacker-Wolff Syndrome [NCIt concept]
Genes related to phenotype
- Zinc finger c4h2 domain-containing protein [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Achilles tendon contracture [HPO term]
- Anteverted nares [HPO term]
- Brachycephaly [HPO term]
- Brain atrophy [HPO term]
- Cleft palate [HPO term]
- Deeply set eye [HPO term]
- Delayed CNS myelination [HPO term]
- Delayed ability to walk [HPO term]
- Distal muscle weakness [HPO term]
- Downturned corners of mouth [HPO term]
- Drooling [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Facial palsy [HPO term]
- Feeding difficulties [HPO term]
- Fetal akinesia sequence [HPO term]
- Flexion contracture [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High forehead [HPO term]
- Hip contracture [HPO term]
- Hip dislocation [HPO term]
- Hypermetropia [HPO term]
- Hyperreflexia [HPO term]
- Inability to walk [HPO term]
- Kyphosis [HPO term]
- Limited shoulder movement [HPO term]
- Long philtrum [HPO term]
- Low-set, posteriorly rotated ears [HPO term]
- Microcephaly [HPO term]
- Microretrognathia [HPO term]
- Narrow chest [HPO term]
- Oculomotor apraxia [HPO term]
- Polyhydramnios [HPO term]
- Posteriorly rotated ears [HPO term]
- Ptosis [HPO term]
- Radial deviation of the hand [HPO term]
- Rocker bottom foot [HPO term]
- Scoliosis [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Spasticity [HPO term]
- Talipes equinovarus [HPO term]
- U-Shaped upper lip vermilion [HPO term]
- Urinary incontinence [HPO term]
- Ventriculomegaly [HPO term]
- Weakness of facial musculature [HPO term]
- Wide intermamillary distance [HPO term]
- X-linked dominant inheritance [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Female-Restricted Wieacker-Wolff Syndrome [NCIt concept]

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