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PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
8 signs/symptoms
Growth retardation-mild developmental delay-chronic hepatitis syndrome
Congenital short bowel syndrome

SH2B3 CLMP
FLNA


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SH2B3
(0.77)
FLNA



Citations in the biomedical literature:


Growth retardation-mild developmental delay-chronic hepatitis syndrome
SH2B3
Congenital short bowel syndrome
CLMP FLNA



Growth retardation-mild developmental delay-chronic hepatitis syndrome
Congenital short bowel syndrome

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

Classification (ICD10):
(no data available)
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: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive

External references:
No OMIM references
No MeSH references
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


Growth retardation-mild developmental delay-chronic hepatitis syndrome

(no data available)