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Perrault syndrome

4 OMIM references -
4 associated genes
20 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5

Baraitser-Winter syndrome

2 OMIM references -
2 associated genes
44 signs/symptoms

Perrault syndrome

Baraitser-Winter syndrome

CLPP	(UniProt - OMIM)		ACTB	(UniProt - OMIM)
HARS2	(UniProt - OMIM)		ACTG1	(UniProt - OMIM)
HSD17B4	(UniProt - OMIM)
LARS2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HSD17B4	(0.52)	ACTB

Citations in the biomedical literature:

Perrault syndrome		Baraitser-Winter syndrome
	Synonym(s): - XX gonodal dysgenesis - deafness		Synonym(s): - Cerebrofrontofacial syndrome type 3 - Iris coloboma-ptosis-intellectual deficit syndrome

	Classification (Orphanet): - Inborn errors of metabolism - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare infertility - Rare otorhinolaryngologic disease - Rare urogenital disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - 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: adolescence / young Average age of death: - Type of inheritance: autosomal recessive		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

	External references: 4 OMIM references - No MeSH references		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal recessive inheritance - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Intellectual deficit / mental / psychomotor retardation / learning disability - Ptosis - Scoliosis

Perrault syndrome		Baraitser-Winter syndrome
	Very frequent - Abnormal / polycystic ovaries - Late puberty / hypogonadism / hypogenitalism - Primary amenorrhea - Sensorineural deafness / hearing loss - Uterine / uterus / Fallopian tubes anomalies Frequent - Short stature / dwarfism / nanism Occasional - Ataxia / incoordination / trouble of the equilibrium - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Hemiplegia / diplegia / hemiparesia / limb palsy - Nerve conduction abnormality - Nystagmus - Oculomotor apraxia / dyspraxia - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy - Peripheral neuropathy - Precocious menopause / secondary amenorrhea		Very frequent - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - 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 - Long philtrum - Macrostomia / big mouth - Micrognathia / retrognathia / micrognathism / retrognathism - Pointed chin - Prominent metopic suture - 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 - 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 - Thumb duplication / distal bifid thumb phalangeal bone - Transient cerebral ischemia / stroke - Webbed neck / pterygium colli