White-sutton syndrome

Preferred Label : White-sutton syndrome;

Symbol : WHSUS;

CISMeF acronym : MRD37; WHSUS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MRD37; Mental retardation, autosomal dominant 37;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the POGO transposable element with ZNF domain gene (POGZ, 614787.0001);

Prefixed ID : #616364;

Details

Origin ID

616364;

UMLS CUI

C4225351;

CISMeF manual mappings
- White-Sutton syndrome [DO Concept]
Currated CISMeF NLP mapping
- White Sutton syndrome (disorder) [SNOMED CT concept]
- White-Sutton syndrome [ORDO Disease]
DO Cross reference
- White-Sutton syndrome [DO Concept]
Genes related to phenotype
- Pogo transposable element-derived protein with znf domain [OMIM gene]
HPO term(s)
- Abnormal electroretinogram [HPO term]
- Abnormality of the outer ear [HPO term]
- Abnormality of visual evoked potentials [HPO term]
- Aggressive behavior [HPO term]
- Anxiety [HPO term]
- Astigmatism [HPO term]
- Atrial septal defect [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid uvula [HPO term]
- Bilateral sensorineural hearing impairment [HPO term]
- Brachycephaly [HPO term]
- Brachydactyly [HPO term]
- Broad foot [HPO term]
- Broad forehead [HPO term]
- Broad nasal tip [HPO term]
- Broad thumb [HPO term]
- Cerebral atrophy [HPO term]
- Cleft palate [HPO term]
- Congenital diaphragmatic hernia [HPO term]
- Congenital onset [HPO term]
- Constipation [HPO term]
- Delayed CNS myelination [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Depressed nasal tip [HPO term]
- Downslanted palpebral fissures [HPO term]
- Downturned corners of mouth [HPO term]
- Duplicated collecting system [HPO term]
- Exotropia [HPO term]
- Facial hypotonia [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Focal impaired awareness seizure [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hyperactivity [HPO term]
- Hypermetropia [HPO term]
- Hypertelorism [HPO term]
- Hypoglycemic seizures [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypoplastic cervical vertebrae [HPO term]
- Hypotonia [HPO term]
- Immunodeficiency [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Iris coloboma [HPO term]
- Irritability [HPO term]
- Joint laxity [HPO term]
- Low-set ears [HPO term]
- Malar flattening [HPO term]
- Mandibular prognathia [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Mild myopia [HPO term]
- Motor delay [HPO term]
- Myopia [HPO term]
- Nystagmus [HPO term]
- Obesity [HPO term]
- Obstructive sleep apnea [HPO term]
- Optic nerve hypoplasia [HPO term]
- Overfriendliness [HPO term]
- Patent ductus arteriosus [HPO term]
- Patent foramen ovale [HPO term]
- Pointed chin [HPO term]
- Poor suck [HPO term]
- Posteriorly rotated ears [HPO term]
- Recurrent infections [HPO term]
- Rod-cone dystrophy [HPO term]
- Self-injurious behavior [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short neck [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Sleep disturbance [HPO term]
- Sparse hair [HPO term]
- Strabismus [HPO term]
- Thin corpus callosum [HPO term]
- Thin vermilion border [HPO term]
- Tics [HPO term]
- Upslanted palpebral fissure [HPO term]
- Visual impairment [HPO term]
- Waddling gait [HPO term]
- Wormian bones [HPO term]
ORDO concept(s)
- White-Sutton syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- White Sutton syndrome (disorder) [SNOMED CT concept]
- White-Sutton syndrome [DO Concept]

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