Intellectual developmental disorder with language impairment and with or without autistic features

Preferred Label : Intellectual developmental disorder with language impairment and with or without autistic features;

Symbol : IDDLA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation with language impairment and with or without autistic features;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the forkhead box P1 gene (FOXP1, 605515.0001);

Prefixed ID : #613670;

Details

Origin ID

613670;

UMLS CUI

C4013764;

Automatic exact mappings (from CISMeF team)
- Intellectual disability-severe speech delay-mild dysmorphism syndrome [ORDO Disease]
- intellectual disability-severe speech delay-mild dysmorphism syndrome [DO Concept]
DO Cross reference
- intellectual disability-severe speech delay-mild dysmorphism syndrome [DO Concept]
Genes related to phenotype
- Forkhead box p1 [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Anxiety [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad nasal tip [HPO term]
- Delayed CNS myelination [HPO term]
- Delayed ability to walk [HPO term]
- Delayed gross motor development [HPO term]
- Delayed speech and language development [HPO term]
- Downslanted palpebral fissures [HPO term]
- Drooling [HPO term]
- Enuresis [HPO term]
- Failure to thrive in infancy [HPO term]
- Feeding difficulties in infancy [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypertelorism [HPO term]
- Infantile onset [HPO term]
- Inflexible adherence to routines or rituals [HPO term]
- Intellectual disability [HPO term]
- Language impairment [HPO term]
- Macrocephaly [HPO term]
- Malar flattening [HPO term]
- Motor delay [HPO term]
- Nystagmus [HPO term]
- Obesity [HPO term]
- Obsessive-compulsive behavior [HPO term]
- Open mouth [HPO term]
- Prominent digit pad [HPO term]
- Prominent forehead [HPO term]
- Retrognathia [HPO term]
- Self-injurious behavior [HPO term]
- Short nose [HPO term]
- Speech apraxia [HPO term]
- Strabismus [HPO term]
ORDO concept(s)
- Intellectual disability-severe speech delay-mild dysmorphism syndrome [ORDO Disease]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]

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