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Periventricular nodular heterotopia

5 OMIM references -
3 associated genes
No signs/symptoms info

COMMON GENES: 1

Congenital short bowel syndrome

2 OMIM references -
2 associated genes
8 signs/symptoms

Periventricular nodular heterotopia

Congenital short bowel syndrome

ARFGEF2	(UniProt - OMIM)		CLMP	(UniProt - OMIM)
ERMARD	(UniProt - OMIM)		FLNA	(UniProt - OMIM)
FLNA	(UniProt - OMIM)


COMMON GENES	FLNA

Citations in the biomedical literature:

Periventricular nodular heterotopia		Congenital short bowel syndrome

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

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

	Epidemiological data: Class of prevalence: unknown Average age onset: - Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive

	External references: 5 OMIM references - 1 MeSH reference: D054091		External references: 2 OMIM references - No MeSH references

Congenital short bowel syndrome
	Very frequent - Short bowel Frequent - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Intellectual deficit / mental / psychomotor retardation / learning disability - Intestinal / gut / bowel malrotation - Lipoatrophy - Short stature / dwarfism / nanism - Stillbirth / neonatal death Occasional - Hypospadias / epispadias / bent penis
Periventricular nodular heterotopia
(no data available)