Global developmental delay with speech and behavioral abnormalities

Preferred Label : Global developmental delay with speech and behavioral abnormalities;

Symbol : GDSBA;

Type : Phenotype, molecular basis known;

Prefixed ID : #619243;

Details

Origin ID

619243;

UMLS CUI

C5543226;

Genes related to phenotype
- Trinucleotide repeat-containing gene 6b [OMIM gene]
HPO term(s)
- Anal atresia [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cryptorchidism [HPO term]
- Delayed fine motor development [HPO term]
- Delayed gross motor development [HPO term]
- Delayed speech and language development [HPO term]
- Downslanted palpebral fissures [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Hypotonia [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Joint hypermobility [HPO term]
- Macrocephaly [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Precocious puberty [HPO term]
- Recurrent otitis media [HPO term]
- Seizure [HPO term]
- Sleep disturbance [HPO term]
- Supernumerary nipple [HPO term]
- Thin upper lip vermilion [HPO term]
- Triangular face [HPO term]
ORDO concept(s)
- Non-specific syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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