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Cerebellar ataxia - hypogonadism
2 OMIM references -
3 associated genes
18 signs/symptoms
PROTEIN INTERACTIONS: 1
Familial hypospadias
4 OMIM references -
2 associated genes
1 sign/symptom
Cerebellar ataxia - hypogonadism
Familial hypospadias

PNPLA6
(UniProt - OMIM)
 AR
(UniProt - OMIM)
RNF216
(UniProt - OMIM)
 MAMLD1
(UniProt - OMIM)
STUB1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
STUB1
(0.86)
AR


Citations in the biomedical literature:


Cerebellar ataxia - hypogonadism
PNPLA6 RNF216 STUB1
Familial hypospadias
AR MAMLD1



Cerebellar ataxia - hypogonadism
Familial hypospadias

Synonym(s):
- Luteinizing hormone-releasing hormone deficiency with ataxia
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare urogenital disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references
External references:
4 OMIM references -
No MeSH references
Cerebellar ataxia - hypogonadism
Familial hypospadias

Very frequent
- Abnormal ERG / electroretinogram / electroretinography
- Ataxia / incoordination / trouble of the equilibrium
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies
- Late puberty / hypogonadism / hypogenitalism
- Nystagmus
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Retinitis pigmentosa / retinal pigmentary changes
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Sterility / hypofertility

Frequent
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypotonia

Occasional
- Brachycephaly / flat occiput
- Clinodactyly of fifth finger
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline
- Short stature / dwarfism / nanism
- Supernumerary nipples / polythelia


Very frequent
- Hypospadias / epispadias / bent penis