ODCs

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8p11.2 deletion syndrome

1 associated gene
34 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Hydrocephalus with stenosis of aqueduct of Sylvius

1 OMIM reference -
1 associated gene
16 signs/symptoms

8p11.2 deletion syndrome

Hydrocephalus with stenosis of aqueduct of Sylvius

ANK1

(UniProt - OMIM)

L1CAM

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ANK1	(0.58)	L1CAM

Citations in the biomedical literature:

8p11.2 deletion syndrome		Hydrocephalus with stenosis of aqueduct of Sylvius
	Synonym(s): - Del(8)(p11.2) - Monosomy 8p11.2		Synonym(s): - Bickers-Adams syndrome - HSAS - X-linked HSAS - X-linked acqueductal stenosis - X-linked hydrocephalus with stenosis of aqueduct of Sylvius

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: sporadic		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked recessive

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability - Nystagmus - Seizures / epilepsy / absences / spasms / status epilepticus

8p11.2 deletion syndrome		Hydrocephalus with stenosis of aqueduct of Sylvius
	Very frequent - Hemolytic anemia - Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism - Insterstitial / subtelomeric microdeletion / deletion - Late puberty / hypogonadism / hypogenitalism - Micrognathia / retrognathia / micrognathism / retrognathism - Micropenis / small penis / agenesis - Red cell structure / shape anomalies - Short stature / dwarfism / nanism - Undescended / ectopic testes / cryptorchidia / unfixed testes Frequent - Azoospermia / oligospermia / asthenospermia - Branchial / posterior auricular / preauricular / cheek cysts / fistulae - External ear anomalies - High vaulted / narrow palate - Microcephaly Occasional - Anosmia / cacosmia / hypogeusia / hyposmia / olfactory bulb hypoplasia - Atrial septal defect / interauricular communication - Blepharophimosis / short palpebral fissures - Coloboma of iris - Depressed nasal bridge - Epicanthic folds - Failure to thrive / difficulties for feeding in infancy / growth delay - Hypertelorism - Microcornea - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Patent ductus arteriosus - Retinal / chorioretinal dysplasia / dystrophy - Rib number anomalies - Sacral sinus / dimple - Splenomegaly - Talipes-varus / metatarsal varus - Upslanted palpebral fissures / mongoloid slanting palpebral fissures		Very frequent - Cranial hypertension - Hemiplegia / diplegia / hemiparesia / limb palsy - Hydrocephaly - Hypertonia / spasticity / rigidity / stiffness - Stenosis of aqueduc of Sylvius - X-linked recessive inheritance Frequent - Clasp thumb / thumb adduction / distal thumb phalangeal bone deviated / large Occasional - Autosomal recessive inheritance - Coarse face - Corpus callosum / septum pellucidum total / partial agenesis - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Restricted joint mobility / joint stiffness / ankylosis - Strabismus / squint