Forsythe-wakeling syndrome

Preferred Label : Forsythe-wakeling syndrome;

Symbol : FWS;

CISMeF acronym : FWS;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Microcephaly and growth retardation with childhood-onset nephrotic syndrome and thrombocytopenia;

Inheritance : Autosomal recessive;

Laboratory abnormalities : Intermediate level of cellular sensitivity to UV light;

Prefixed ID : %613606;

Details

Origin ID

613606;

UMLS CUI

C3150859;

False automatic mappings
- Food and Water Consumption Domain [NCIt concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Decreased body weight [HPO term]
- Deeply set eye [HPO term]
- Delayed skeletal maturation [HPO term]
- Delayed speech and language development [HPO term]
- Frontal bossing [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Low-set ears [HPO term]
- Macrotia [HPO term]
- Microcephaly [HPO term]
- Nephrotic syndrome [HPO term]
- Osteoporosis [HPO term]
- Prominent nasal bridge [HPO term]
- Short stature [HPO term]
- Thrombocytopenia [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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