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Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome

ORPHA:641353Ауру

Infantile neurovisceral acid sphingomyelinase deficiency

ORPHA:77292Ауру
Autosomal recessive

Infantile onset panniculitis with uveitis and systemic granulomatosis

ORPHA:251304Ауру
Not applicable

Infantile osteopetrosis with neuroaxonal dysplasia

ORPHA:85179Мальф.
Autosomal recessive

Infantile spasms-broad thumbs syndrome

ORPHA:3173Ауру

Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome

ORPHA:263410Ауру
Autosomal recessive

Infantile systemic hyalinosis

ORPHA:2176Клин. под.
Autosomal recessive

Infantile-onset X-linked spinal muscular atrophy

ORPHA:1145Ауру
X-linked recessive

Infantile-onset ascending hereditary spastic paralysis

ORPHA:293168Ауру
Autosomal recessive

Infantile-onset autosomal recessive nonprogressive cerebellar ataxia

ORPHA:284332Ауру
Autosomal recessive

Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome

ORPHA:457205Ауру
Autosomal recessive

Infantile-onset generalized dyskinesia with orofacial involvement

ORPHA:494526Ауру
Autosomal recessive

Infantile-onset inflammatory bowel disease-hearing loss-recurrent infections syndrome

ORPHA:714423Ауру
Autosomal dominant

Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression

ORPHA:391316Ауру
Autosomal recessive

Infantile-onset periodic fever-panniculitis-dermatosis syndrome

ORPHA:500062Ауру
Autosomal recessive

Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia

ORPHA:572428Ауру
Autosomal dominant

Infantile-onset spinocerebellar ataxia

ORPHA:1186Ауру
Autosomal recessive

Infection-related hemolytic uremic syndrome

ORPHA:544482Ауру
Not applicable

Infectious anterior uveitis

ORPHA:279922Ауру

Infectious panuveitis

ORPHA:279925Ауру

Infectious posterior uveitis

ORPHA:279919Ауру

Infective dermatitis associated with HTLV-1

ORPHA:289347Ауру
Not applicable

Infective endocarditis

ORPHA:570762Ауру

Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndrome

ORPHA:714472Ауру
Autosomal dominant