Blepharophimosis-impaired intellectual development syndrome

Preferred Label : Blepharophimosis-impaired intellectual development syndrome;

Symbol : BIS;

Type : Phenotype, molecular basis known;

Prefixed ID : #619293;

Details

Origin ID

619293;

UMLS CUI

C5443984;

Genes related to phenotype
- Swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a, member 2 [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Aplastic/hypoplastic toenail [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blepharophimosis [HPO term]
- Chiari malformation [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Cryptorchidism [HPO term]
- Delayed ability to walk [HPO term]
- Delayed skeletal maturation [HPO term]
- Delayed speech and language development [HPO term]
- Dental malocclusion [HPO term]
- Dimple chin [HPO term]
- Drooling [HPO term]
- Enamel hypoplasia [HPO term]
- Enuresis [HPO term]
- Epicanthus [HPO term]
- Exaggerated cupid's bow [HPO term]
- Feeding difficulties [HPO term]
- Flat face [HPO term]
- Flexion contracture [HPO term]
- Frontal bossing [HPO term]
- Gastroesophageal reflux [HPO term]
- Global developmental delay [HPO term]
- Highly arched eyebrow [HPO term]
- Hip dysplasia [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the pons [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Joint laxity [HPO term]
- Labial hypoplasia [HPO term]
- Long eyelashes [HPO term]
- Low anterior hairline [HPO term]
- Low frustration tolerance [HPO term]
- Low-set ears [HPO term]
- Microdontia [HPO term]
- Narrow nasal ridge [HPO term]
- Narrow palpebral fissure [HPO term]
- Overfriendliness [HPO term]
- Patent ductus arteriosus [HPO term]
- Pes planus [HPO term]
- Plagiocephaly [HPO term]
- Posteriorly rotated ears [HPO term]
- Ptosis [HPO term]
- Recurrent bronchitis [HPO term]
- Recurrent pneumonia [HPO term]
- Recurrent urinary tract infections [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short distal phalanx of finger [HPO term]
- Short philtrum [HPO term]
- Sparse eyebrow [HPO term]
- Sparse eyelashes [HPO term]
- Sparse scalp hair [HPO term]
- Synophrys [HPO term]
- Talipes equinovarus [HPO term]
- Tapered finger [HPO term]
- Thick eyebrow [HPO term]
- Thin corpus callosum [HPO term]
- Thin upper lip vermilion [HPO term]
- Underdeveloped nasal alae [HPO term]
- Wide mouth [HPO term]
- Wide nasal bridge [HPO term]
- Wide nose [HPO term]
- Widely spaced teeth [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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