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4 OMIM references -
2 associated genes
1 sign/symptom
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
2 OMIM references -
2 associated genes
8 signs/symptoms
Familial hypospadias
Congenital short bowel syndrome

AR CLMP
MAMLD1 FLNA


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
AR
(0.84)
FLNA



Citations in the biomedical literature:


Familial hypospadias
AR MAMLD1
Congenital short bowel syndrome
CLMP FLNA



Familial hypospadias
Congenital short bowel syndrome

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare urogenital 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: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive

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


COMMON
SIGNS
- Hypospadias / epispadias / bent penis


Familial hypospadias
Congenital short bowel syndrome

(no more signs)

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