MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen

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

ORPHA:641353Kr.

Infantile neurovisceral acid sphingomyelinase deficiency

ORPHA:77292Kr.
Autosomal recessive

Infantile onset panniculitis with uveitis and systemic granulomatosis

ORPHA:251304Kr.
Not applicable

Infantile osteopetrosis with neuroaxonal dysplasia

ORPHA:85179Malf.
Autosomal recessive

Infantile spasms-broad thumbs syndrome

ORPHA:3173Kr.

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

ORPHA:263410Kr.
Autosomal recessive

Infantile systemic hyalinosis

ORPHA:2176Kl. subt.
Autosomal recessive

Infantile-onset X-linked spinal muscular atrophy

ORPHA:1145Kr.
X-linked recessive

Infantile-onset ascending hereditary spastic paralysis

ORPHA:293168Kr.
Autosomal recessive

Infantile-onset autosomal recessive nonprogressive cerebellar ataxia

ORPHA:284332Kr.
Autosomal recessive

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

ORPHA:457205Kr.
Autosomal recessive

Infantile-onset generalized dyskinesia with orofacial involvement

ORPHA:494526Kr.
Autosomal recessive

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

ORPHA:714423Kr.
Autosomal dominant

Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression

ORPHA:391316Kr.
Autosomal recessive

Infantile-onset periodic fever-panniculitis-dermatosis syndrome

ORPHA:500062Kr.
Autosomal recessive

Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia

ORPHA:572428Kr.
Autosomal dominant

Infantile-onset spinocerebellar ataxia

ORPHA:1186Kr.
Autosomal recessive

Infection-related hemolytic uremic syndrome

ORPHA:544482Kr.
Not applicable

Infectious anterior uveitis

ORPHA:279922Kr.

Infectious panuveitis

ORPHA:279925Kr.

Infectious posterior uveitis

ORPHA:279919Kr.

Infective dermatitis associated with HTLV-1

ORPHA:289347Kr.
Not applicable

Infective endocarditis

ORPHA:570762Kr.

Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndrome

ORPHA:714472Kr.
Autosomal dominant