Luo-schoch-yamamoto syndrome

Preferred Label : Luo-schoch-yamamoto syndrome;

Symbol : LUSYAM;

Type : Phenotype, molecular basis known;

Prefixed ID : #619460;

Origin ID

619460;

UMLS CUI

C5561946;

Genes related to phenotype
- Ring finger protein 2 [OMIM gene]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Almond-shaped palpebral fissure [HPO term]
- Anteverted nares [HPO term]
- Astigmatism [HPO term]
- Autosomal dominant inheritance [HPO term]
- Deeply set eye [HPO term]
- Depressed nasal bridge [HPO term]
- Ectropion of lower eyelids [HPO term]
- Exotropia [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties in infancy [HPO term]
- Fetal onset [HPO term]
- Highly arched eyebrow [HPO term]
- Hyperreflexia [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Intellectual disability, severe [HPO term]
- Intrauterine growth retardation [HPO term]
- Long eyelashes [HPO term]
- Narrow mouth [HPO term]
- Oligohydramnios [HPO term]
- Primary microcephaly [HPO term]
- Recurrent otitis media [HPO term]
- Seizure [HPO term]
- Severe global developmental delay [HPO term]
- Short foot [HPO term]
- Short philtrum [HPO term]
- Small hand [HPO term]
- Strabismus [HPO term]
- Thick vermilion border [HPO term]
- Tricuspid regurgitation [HPO term]
- Umbilical hernia [HPO term]
- Wide mouth [HPO term]
- Wide nose [HPO term]
- Widely-spaced maxillary central incisors [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]