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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Cabezas syndrome

1 OMIM reference -
1 associated gene
23 signs/symptoms

COG4-CDG

Cabezas syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COG4	(0.63)	CUL4B

Citations in the biomedical literature:

COG4-CDG		Cabezas syndrome
	Synonym(s): - CDG syndrome type IIj - CDG-IIj - CDG2J - Carbohydrate deficient glycoprotein syndrome type IIj - Congenital disorder of glycosylation type IIj		Synonym(s): - X-linked intellectual deficit, Cabezas type

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hepatic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): (no data available)

	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: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: x-linked recessive

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

Cabezas syndrome
	Very frequent - Inguinal / inguinoscrotal / crural hernia - Intellectual deficit / mental / psychomotor retardation / learning disability - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia 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 - Short stature / dwarfism / nanism - 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 - Late puberty / hypogonadism / hypogenitalism - Syndactyly of toes
COG4-CDG
(no data available)