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Cerebellar ataxia - hypogonadism

2 OMIM references -
3 associated genes
18 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Cabezas syndrome

1 OMIM reference -
1 associated gene
23 signs/symptoms

Cerebellar ataxia - hypogonadism

Cabezas syndrome

PNPLA6	(UniProt - OMIM)		CUL4B	(UniProt - OMIM)
RNF216	(UniProt - OMIM)
STUB1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	STUB1	(0.63)	CUL4B

Citations in the biomedical literature:

Cerebellar ataxia - hypogonadism		Cabezas syndrome
	Synonym(s): - Luteinizing hormone-releasing hormone deficiency with ataxia		Synonym(s): - X-linked intellectual deficit, Cabezas type

	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 neurologic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: x-linked recessive

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


COMMON SIGNS	- Late puberty / hypogonadism / hypogenitalism - Short stature / dwarfism / nanism - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Cerebellar ataxia - hypogonadism		Cabezas syndrome
	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 - Nystagmus - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Retinitis pigmentosa / retinal pigmentary changes - 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 - Supernumerary nipples / polythelia		Very frequent - Inguinal / inguinoscrotal / crural hernia - Intellectual deficit / mental / psychomotor retardation / learning disability Frequent - Abnormal gait - Blepharophimosis / short palpebral fissures - Everted lower lip - Generalized obesity - Macrocephaly / macrocrania / megalocephaly / megacephaly - Pes cavus - Seizures / epilepsy / absences / spasms / status epilepticus - Short foot / brachydactyly of toes - Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia - Tremor - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy - Wide space between 1st-2nd toes Occasional - Acanthosis nigricans - Hyperextensible joints / articular hyperlaxity - Hyperhidrosis / increased sweating - Immunodeficiency / increased susceptibility to infections / recurrent infections - Kyphosis - Syndactyly of toes