Intellectual developmental disorder with impaired language and dysmorphic facies

Preferred Label : Intellectual developmental disorder with impaired language and dysmorphic facies;

Symbol : IDDILF;

CISMeF acronym : IDDILF;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the DEAD-box helicase 6 gene (DDX6, 600326.0001);

Prefixed ID : #618653;

Details

Origin ID

618653;

UMLS CUI

C5231444;

Genes related to phenotype
- Dead-box helicase 6 [OMIM gene]
HPO term(s)
- 2-3 toe syndactyly [HPO term]
- Accelerated skeletal maturation [HPO term]
- Anisocoria [HPO term]
- Anteriorly placed anus [HPO term]
- Arteria lusoria [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cryptorchidism [HPO term]
- Cutaneous photosensitivity [HPO term]
- Delayed CNS myelination [HPO term]
- Delayed cranial suture closure [HPO term]
- Delayed speech and language development [HPO term]
- Difficulty walking [HPO term]
- Epicanthus [HPO term]
- Feeding difficulties [HPO term]
- Frontal bossing [HPO term]
- Global developmental delay [HPO term]
- Heart murmur [HPO term]
- High palate [HPO term]
- Highly arched eyebrow [HPO term]
- Hydronephrosis [HPO term]
- Hypermetropia [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hyposmia [HPO term]
- Hypotonia [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Micropenis [HPO term]
- Narrow forehead [HPO term]
- Narrow palpebral fissure [HPO term]
- Obesity [HPO term]
- Oligohydramnios [HPO term]
- Overfolded helix [HPO term]
- Overlapping toe [HPO term]
- Patent foramen ovale [HPO term]
- Pelvic kidney [HPO term]
- Recurrent infections [HPO term]
- Scoliosis [HPO term]
- Single umbilical artery [HPO term]
- Smooth philtrum [HPO term]
- Strabismus [HPO term]
- Supernumerary nipple [HPO term]
- Tapered finger [HPO term]
- Tibial torsion [HPO term]
- Vesicoureteral reflux [HPO term]
ORDO concept(s)
- Non-specific syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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