Faundes-banka syndrome

Preferred Label : Faundes-banka syndrome;

Symbol : FABAS;

Type : Phenotype, molecular basis known;

Prefixed ID : #619376;

Origin ID

619376;

UMLS CUI

C5543554;

Genes related to phenotype
- Eukaryotic translation initiation factor 5a [OMIM gene]
HPO term(s)
- Antenatal onset [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad eyebrow [HPO term]
- Bulbous nose [HPO term]
- Chronic constipation [HPO term]
- Cleft palate [HPO term]
- Conductive hearing impairment [HPO term]
- Congenital onset [HPO term]
- Cryptorchidism [HPO term]
- Cupped ear [HPO term]
- Deeply set eye [HPO term]
- Delayed puberty [HPO term]
- Downslanted palpebral fissures [HPO term]
- Dysphagia [HPO term]
- Epicanthus [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties in infancy [HPO term]
- Fetal ascites [HPO term]
- Flexion contracture of toe [HPO term]
- Frontal bossing [HPO term]
- Gastroesophageal reflux [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the lower eyelids [HPO term]
- Hypoplastic toenails [HPO term]
- Hypotonia [HPO term]
- Intrauterine growth retardation [HPO term]
- Joint hypermobility [HPO term]
- Long ear [HPO term]
- Long palpebral fissure [HPO term]
- Low-set ears [HPO term]
- Lumbar hemivertebrae [HPO term]
- Micrognathia [HPO term]
- Microtia [HPO term]
- Neonatal hypotonia [HPO term]
- Pes planus [HPO term]
- Plagiocephaly [HPO term]
- Premature thelarche [HPO term]
- Primary microcephaly [HPO term]
- Sparse scalp hair [HPO term]
- Thin upper lip vermilion [HPO term]
- Underdeveloped nasal alae [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]