Developmental delay with or without dysmorphic facies and autism

Preferred Label : Developmental delay with or without dysmorphic facies and autism;

Symbol : DEDDFA;

CISMeF acronym : DEDDFA;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the transformation/transcription domain-associated protein gene (TRRAP, 603015.0001);

Prefixed ID : #618454;

Details

Origin ID

618454;

UMLS CUI

C5193106;

Genes related to phenotype
- Transformation/transcription domain-associated protein [OMIM gene]
HPO term(s)
- Abnormal cardiac septum morphology [HPO term]
- Absent speech [HPO term]
- Anteverted nares [HPO term]
- Atrophy/Degeneration affecting the brainstem [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bulbous nose [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Cerebral cortical atrophy [HPO term]
- Cleft lip [HPO term]
- Cleft palate [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Coarctation of aorta [HPO term]
- Congenital diaphragmatic hernia [HPO term]
- Cryptorchidism [HPO term]
- Deeply set eye [HPO term]
- Delayed ability to walk [HPO term]
- Delayed myelination [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Epicanthus [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Highly arched eyebrow [HPO term]
- Hydronephrosis [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotelorism [HPO term]
- Inguinal hernia [HPO term]
- Laryngotracheomalacia [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Microphallus [HPO term]
- Nail dysplasia [HPO term]
- Narrow nose [HPO term]
- Obsessive-compulsive behavior [HPO term]
- Patent ductus arteriosus [HPO term]
- Patent foramen ovale [HPO term]
- Polymicrogyria [HPO term]
- Poor speech [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent forehead [HPO term]
- Prominent nasal bridge [HPO term]
- Renal cyst [HPO term]
- Renal hypoplasia [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short foot [HPO term]
- Short nose [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Small nail [HPO term]
- Small scrotum [HPO term]
- Smooth philtrum [HPO term]
- Supernumerary nipple [HPO term]
- Thin upper lip vermilion [HPO term]
- Umbilical hernia [HPO term]
- Upslanted palpebral fissure [HPO term]
- Vesicoureteral reflux [HPO term]
- Visual impairment [HPO term]
- Wide mouth [HPO term]
- Wide nasal bridge [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients