ODCs

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Baraitser-Winter syndrome

2 OMIM references -
2 associated genes
44 signs/symptoms

PROTEIN INTERACTIONS: 1

Autosomal recessive systemic lupus erythematosus

1 OMIM reference -
2 associated genes
No signs/symptoms info

Baraitser-Winter syndrome

Autosomal recessive systemic lupus erythematosus

ACTB	(UniProt - OMIM)		DNASE1L3	(UniProt - OMIM)
ACTG1	(UniProt - OMIM)		PRKCD	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ACTB	(0.52)	PRKCD

Citations in the biomedical literature:

Baraitser-Winter syndrome		Autosomal recessive systemic lupus erythematosus
	Synonym(s): - Cerebrofrontofacial syndrome type 3 - Iris coloboma-ptosis-intellectual deficit syndrome		Synonym(s): - Autosomal recessive SLE - Familial SLE - Familial systemic lupus erythematosus

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -

	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: childhood Average age of death: no data available Type of inheritance: autosomal recessive

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

Baraitser-Winter 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 - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Epicanthic folds - Euryblepharon / wide palpebral fissures - Failure to thrive / difficulties for feeding in infancy / growth delay - High arched eyebrows - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Long philtrum - Macrostomia / big mouth - Micrognathia / retrognathia / micrognathism / retrognathism - 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 - Restricted joint mobility / joint stiffness / ankylosis - Retinoschisis / retinal / chorioretinal coloboma - Short neck - Trigonocephaly Occasional - Coloboma of the optic nerve - Microcornea - Puffy eyelids - Scoliosis - Thumb duplication / distal bifid thumb phalangeal bone - Transient cerebral ischemia / stroke - Webbed neck / pterygium colli
Autosomal recessive systemic lupus erythematosus
(no data available)