ODCs

Cytoscape Web

Click node...

Baraitser-Winter syndrome

2 OMIM references -
2 associated genes
44 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 8

Weaver syndrome

1 OMIM reference -
2 associated genes
37 signs/symptoms

Baraitser-Winter syndrome

Weaver syndrome

ACTB	(UniProt - OMIM)		EZH2	(UniProt - OMIM)
ACTG1	(UniProt - OMIM)		NSD1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ACTG1	(0.63)	EZH2

Citations in the biomedical literature:

Baraitser-Winter syndrome		Weaver syndrome
	Synonym(s): - Cerebrofrontofacial syndrome type 3 - Iris coloboma-ptosis-intellectual deficit syndrome		Synonym(s): - Camptodactyly - overgrowth - unusual facies

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic 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: no data available Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536687


COMMON SIGNS	- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Failure to thrive / difficulties for feeding in infancy / growth delay - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Long philtrum - Micrognathia / retrognathia / micrognathism / retrognathism - Restricted joint mobility / joint stiffness / ankylosis - Scoliosis

Baraitser-Winter syndrome		Weaver syndrome
	Very frequent - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Autosomal recessive inheritance - Broad cheeks / cherub-like / cherubin face - Broad nose / nasal bridge - Coarse face - Coloboma of iris - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Epicanthic folds - Euryblepharon / wide palpebral fissures - High arched eyebrows - Macrostomia / big mouth - Pointed chin - Prominent metopic suture - Ptosis - Seizures / epilepsy / absences / spasms / status epilepticus - Short columella / depressed nasal tip - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Telecanthus / canthal dystopy - Thin / retracted lips Frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Heterochromia / mixed colouring of iris - Large fontanelle / delayed fontanelle closure - Long / large / bulbous nose - Low hair line (back) - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Microcephaly - Retinoschisis / retinal / chorioretinal coloboma - Short neck - Trigonocephaly Occasional - Coloboma of the optic nerve - Microcornea - Puffy eyelids - Thumb duplication / distal bifid thumb phalangeal bone - Transient cerebral ischemia / stroke - Webbed neck / pterygium colli		Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - Advanced bone age - Broad forehead - Hypertonia / spasticity / rigidity / stiffness - Long / large ear - Loose skin / skin relaxation / excess skin / creases - Low set ears / posteriorly rotated ears - Macrocephaly / macrocrania / megalocephaly / megacephaly - Metaphyseal anomaly - Tall stature / gigantism / growth acceleration - Thin / hypoplastic toenails - Thin / hypoplastic / hyperconvex fingernails Frequent - Broad foot - Broad / bifid thumb - Camptodactyly of fingers - Fine hair - Inguinal / inguinoscrotal / crural hernia - Large hand - Philtrum deeply grooved - Round face Occasional - Autosomal dominant inheritance - Congenital cardiac anomaly / malformation / cardiopathy - Hyperextensible joints / articular hyperlaxity - Micropenis / small penis / agenesis - Pes cavus - Syndactyly of fingers / interdigital palm - Talipes-varus / metatarsal varus - Undescended / ectopic testes / cryptorchidia / unfixed testes - Wide space between 1st-2nd toes