Witteveen-kolk syndrome

Preferred Label : Witteveen-kolk syndrome;

Symbol : WITKOS;

CISMeF acronym : WITKOS;

Type : Phenotype, molecular basis known;

Included titles and symbols : Chromosome 15q24 deletion syndrome; Chromosome 15q24 duplication syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SIN3, yeast, homolog of, A gene (SIN3A, 607776.0001);

Prefixed ID : #613406;

Details

Origin ID

613406;

UMLS CUI

C4310804;

Currated CISMeF NLP mapping
- Witteveen Kolk syndrome (disorder) [SNOMED CT concept]
- Witteveen-Kolk syndrome [ORDO Disease]
DO Cross reference
- chromosome 15q24 deletion syndrome [DO Concept]
Genes related to phenotype
- Sin3 transcription regulator family member a [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Abnormal nasal bridge morphology [HPO term]
- Abnormal thorax morphology [HPO term]
- Abnormal thumb morphology [HPO term]
- Abnormality of cardiovascular system morphology [HPO term]
- Abnormality of finger [HPO term]
- Abnormality of the eye [HPO term]
- Abnormality of the genital system [HPO term]
- Abnormality of the outer ear [HPO term]
- Abnormality of the voice [HPO term]
- Aggressive behavior [HPO term]
- Anisocoria [HPO term]
- Anteverted nares [HPO term]
- Arachnodactyly [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autism [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Broad nasal root [HPO term]
- Cafe-au-lait spot [HPO term]
- Clinodactyly [HPO term]
- Congenital diaphragmatic hernia [HPO term]
- Conspicuously happy disposition [HPO term]
- Cryptorchidism [HPO term]
- Cupped ear [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Deeply set eye [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Developmental regression [HPO term]
- Downslanted palpebral fissures [HPO term]
- Dysplastic corpus callosum [HPO term]
- Epicanthus [HPO term]
- Facial asymmetry [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Fine hair [HPO term]
- Flared nostrils [HPO term]
- Gastrointestinal atresia [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hearing impairment [HPO term]
- High anterior hairline [HPO term]
- High forehead [HPO term]
- High palate [HPO term]
- High, narrow palate [HPO term]
- High-arched palate [HPO term]
- Hyperactivity [HPO term]
- Hypermetropia [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, mild [HPO term]
- Intrauterine growth retardation [HPO term]
- Iris coloboma [HPO term]
- Joint laxity [HPO term]
- Long face [HPO term]
- Long philtrum [HPO term]
- Long, narrow facies [HPO term]
- Long, smooth philtrum [HPO term]
- Macrotia [HPO term]
- Medial flaring of the eyebrow [HPO term]
- Microcephaly [HPO term]
- Micropenis [HPO term]
- Microphallus [HPO term]
- Microphthalmia [HPO term]
- Microretrognathia [HPO term]
- Morphological central nervous system abnormality [HPO term]
- Narrow face [HPO term]
- Narrow mouth [HPO term]
- Nystagmus [HPO term]
- Obesity [HPO term]
- Open mouth [HPO term]
- Polyhydramnios [HPO term]
- Prominent nasal bridge [HPO term]
- Proximal placement of thumb [HPO term]
- Radial deviation of finger [HPO term]
- Recurrent infections [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short nose [HPO term]
- Short palm [HPO term]
- Short stature [HPO term]
- Short thumb [HPO term]
- Single transverse palmar crease [HPO term]
- Sleep disturbance [HPO term]
- Small for gestational age [HPO term]
- Smooth philtrum [HPO term]
- Sporadic [HPO term]
- Strabismus [HPO term]
- Thick lower lip vermilion [HPO term]
- Thin lips [HPO term]
- Thin vermilion border [HPO term]
- Toe syndactyly [HPO term]
- Underdeveloped nasal alae [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventriculomegaly [HPO term]
- Wide nasal bridge [HPO term]
- Wide nose [HPO term]
- Widely spaced teeth [HPO term]
ORDO concept(s)
- 15q24 microdeletion syndrome [ORDO Disease]
- SIN3A-related intellectual disability syndrome due to a point mutation [ORDO Disease]
See also inter- (CISMeF)
- 15q24 deletion [ICD-11 More detail]
- 15q24 microdeletion [MeSH concept]
- 15q24 microdeletion [MeSH Supplementary Concept]
- 15q24 microdeletion syndrome [ORDO Disease]
- Microdeletion of chromosome 15q24 (disorder) [SNOMED CT concept]
- chromosome 15q24 deletion syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Witteveen Kolk syndrome (disorder) [SNOMED CT concept]

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