Kondoh syndrome

Preferred Label : Kondoh syndrome;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism;

Inheritance : Autosomal recessive;

Prefixed ID : %606242;

Details

Origin ID

606242;

UMLS CUI

C1853480;

HPO term(s)
- Abnormal facial shape [HPO term]
- Atopic dermatitis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Intellectual disability [HPO term]
- Interphalangeal joint contracture of finger [HPO term]
- Intrauterine growth retardation [HPO term]
- Knee contractures [HPO term]
- Knee flexion contracture [HPO term]
- Long philtrum [HPO term]
- Microcephaly [HPO term]
- Pear-shaped nose [HPO term]
- Preaxial hand polydactyly [HPO term]
- Prenatal growth deficiency [HPO term]
- Ptosis [HPO term]
- Short stature [HPO term]
- Sparse hair [HPO term]
- Thick eyebrow [HPO term]
- Thin upper lip vermilion [HPO term]
- Widow's peak [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism [MeSH Supplementary Concept]
- mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism [MeSH concept]

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