Genitourinary and/or brain malformation syndrome

Preferred Label : Genitourinary and/or brain malformation syndrome;

Symbol : GUBS;

CISMeF acronym : GUBS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the protein phosphatase 1, regulatory subunit 12A gene (PPP1R12A, 602021.0001);

Prefixed ID : #618820;

Details

Origin ID

618820;

UMLS CUI

C5394158;

Genes related to phenotype
- Protein phosphatase 1, regulatory subunit 12a [OMIM gene]
HPO term(s)
- Abnormality of the outer ear [HPO term]
- Absent septum pellucidum [HPO term]
- Acrania [HPO term]
- Agenesis of corpus callosum [HPO term]
- Aplasia of the nasal bone [HPO term]
- Astigmatism [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autosomal dominant inheritance [HPO term]
- Chiari malformation [HPO term]
- Chordee [HPO term]
- Clitoral hypertrophy [HPO term]
- Colpocephaly [HPO term]
- Cryptorchidism [HPO term]
- Dysplastic corpus callosum [HPO term]
- Epicanthus [HPO term]
- Epicanthus inversus [HPO term]
- Flat face [HPO term]
- Global developmental delay [HPO term]
- Gonadal dysgenesis [HPO term]
- Gray matter heterotopia [HPO term]
- Holoprosencephaly [HPO term]
- Hypermetropia [HPO term]
- Hypertelorism [HPO term]
- Hypospadias [HPO term]
- Ileal atresia [HPO term]
- Jejunal atresia [HPO term]
- Joint stiffness [HPO term]
- Kyphoscoliosis [HPO term]
- Long face [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Omphalocele [HPO term]
- Polymicrogyria [HPO term]
- Protruding ear [HPO term]
- Ptosis [HPO term]
- Secondary microcephaly [HPO term]
- Short nose [HPO term]
- Short palpebral fissure [HPO term]
- Strabismus [HPO term]
- Streak ovary [HPO term]
- Syndactyly [HPO term]
- Upslanted palpebral fissure [HPO term]
- Urogenital sinus anomaly [HPO term]
- Uterus didelphys [HPO term]
- Visual impairment [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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