Suleiman-el-hattab syndrome

Preferred Label : Suleiman-el-hattab syndrome;

Symbol : SULEHS;

CISMeF acronym : SULEHS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the threonine aspartase 1 gene (TASP1, 608270.0001);

Prefixed ID : #618950;

Details

Origin ID

618950;

UMLS CUI

C5436458;

Genes related to phenotype
- Threonine aspartase 1 [OMIM gene]
HPO term(s)
- Amblyopia [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blue nevus [HPO term]
- Brachydactyly [HPO term]
- Clinodactyly [HPO term]
- Congenital onset [HPO term]
- Cryptorchidism [HPO term]
- Downslanted palpebral fissures [HPO term]
- Downturned corners of mouth [HPO term]
- Drooling [HPO term]
- Epicanthus [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Frontal hirsutism [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Happy demeanor [HPO term]
- Hearing impairment [HPO term]
- High palate [HPO term]
- Highly arched eyebrow [HPO term]
- Hirsutism [HPO term]
- Hydronephrosis [HPO term]
- Hypermetropia [HPO term]
- Hypertelorism [HPO term]
- Inguinal hernia [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Microretrognathia [HPO term]
- Optic disc pallor [HPO term]
- Overfolded helix [HPO term]
- Palpebral thickening [HPO term]
- Patent foramen ovale [HPO term]
- Periorbital fullness [HPO term]
- Polydactyly [HPO term]
- Preauricular skin tag [HPO term]
- Prominent glabella [HPO term]
- Protruding ear [HPO term]
- Recurrent respiratory infections [HPO term]
- Seizure [HPO term]
- Single transverse palmar crease [HPO term]
- Smooth philtrum [HPO term]
- Strabismus [HPO term]
- Synophrys [HPO term]
- Thick eyebrow [HPO term]
- Thick lower lip vermilion [HPO term]
- Thin upper lip vermilion [HPO term]
- Ventricular septal defect [HPO term]
- Webbed neck [HPO term]
- Wide mouth [HPO term]
- Wide nasal bridge [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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