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Hemimegalencephaly

2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 2

Linear nevus sebaceus syndrome

1 OMIM reference -
2 associated genes
31 signs/symptoms

Hemimegalencephaly

Linear nevus sebaceus syndrome

AKT3	(UniProt - OMIM)		HRAS	(UniProt - OMIM)
PIK3CA	(UniProt - OMIM)		KRAS	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PIK3CA PIK3CA	(0.95) (0.7)	HRAS KRAS

Citations in the biomedical literature:

Hemimegalencephaly		Linear nevus sebaceus syndrome
	Synonym(s): - Unilateral megalencephaly		Synonym(s): - Nevus sebaceus of Jadassohn - Nevus sebaceus syndrome - Organoid nevus syndrome - Schimmelpenning syndrome - Solomon syndrome

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

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

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: any age Type of inheritance: sporadic

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

Linear nevus sebaceus syndrome
	Very frequent - Adenoma sebaceum - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Areflexia / hyporeflexia - Asymmetry of the body / hemiatrophy / hemihyperthrophy - Autosomal dominant inheritance - Cavernous / tuberous hemangioma - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Coloboma of iris - Dilated cerebral ventricles without hydrocephaly - EEG anomalies - Frontal bossing / prominent forehead - Genu recurvatum - Hypereflexia - Hypotonia - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Intellectual deficit / mental / psychomotor retardation / learning disability - Narrow forehead - Pigmented naevi / naevus pigmentosus / lentigo - Prominent occiput / occipital bossing - Seizures / epilepsy / absences / spasms / status epilepticus - Telecanthus / canthal dystopy - Vertebral segmentation anomaly / hemivertebrae Frequent - Anomalies of eyes and vision - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Irregular / in bands / reticular skin hyperpigmentation - Plagiocephaly - Porencephaly Occasional - Corpus callosum / septum pellucidum total / partial agenesis - Dandy-Walker anomaly - Failure to thrive / difficulties for feeding in infancy / growth delay - Intracranial / cerebral calcifications
Hemimegalencephaly
(no data available)