Lessel-kreienkamp syndrome

Preferred Label : Lessel-kreienkamp syndrome;

Symbol : LESKRES;

Type : Phenotype, molecular basis known;

Prefixed ID : #619149;

Origin ID

619149;

UMLS CUI

C5436892;

Genes related to phenotype
- Argonaute risc component 2 [OMIM gene]
HPO term(s)
- Abnormal pattern of respiration [HPO term]
- Aggressive behavior [HPO term]
- Atrial septal defect [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bicuspid aortic valve [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Deeply set eye [HPO term]
- Delayed speech and language development [HPO term]
- Dental malocclusion [HPO term]
- Epicanthus [HPO term]
- Feeding difficulties [HPO term]
- Frontal bossing [HPO term]
- Gastroesophageal reflux [HPO term]
- Hearing impairment [HPO term]
- Hypoplastic helices [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Motor delay [HPO term]
- Open mouth [HPO term]
- Overfolded helix [HPO term]
- Patent ductus arteriosus [HPO term]
- Patent foramen ovale [HPO term]
- Plagiocephaly [HPO term]
- Pulmonic stenosis [HPO term]
- Receptive language delay [HPO term]
- Scaphocephaly [HPO term]
- Seizure [HPO term]
- Strabismus [HPO term]
- Thin upper lip vermilion [HPO term]
- Upslanted palpebral fissure [HPO term]
- Visual impairment [HPO term]
- Wide cranial sutures [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Non-specific syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]