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Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер
Табылды 3,968 заболеваний (Ауру) Қалпына келтіру

Indolent systemic mastocytosis

ORPHA:98848Ауру
Not applicable

Infantile LAD-like disease due to RAC2 deficiency

ORPHA:183707Ауру
Autosomal dominant

Infantile Refsum disease

ORPHA:772Ауру
Autosomal recessive

Infantile apnea

ORPHA:70590Ауру

Infantile cerebellar-retinal degeneration

ORPHA:313850Ауру
Autosomal recessive

Infantile choroidocerebral calcification syndrome

ORPHA:1313Ауру
Autosomal recessive

Infantile digital fibromatosis

ORPHA:199267Ауру

Infantile dystonia-parkinsonism

ORPHA:238455Ауру
Autosomal recessive

Infantile epileptic spasms syndrome

ORPHA:697160Ауру
Autosomal dominant, Autosomal recessive, X-linked dominant

Infantile epileptic-dyskinetic encephalopathy

ORPHA:364063Ауру
X-linked recessive

Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

ORPHA:352563Ауру
Autosomal recessive

Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome

ORPHA:522077Ауру
Autosomal dominant

Infantile inflammatory bowel disease with neurological involvement

ORPHA:565788Ауру
Autosomal recessive

Infantile mercury poisoning

ORPHA:247165Ауру
Not applicable

Infantile multisystem neurologic-endocrine-pancreatic disease

ORPHA:456312Ауру
Autosomal recessive

Infantile myofibromatosis

ORPHA:2591Ауру
Autosomal dominant, Autosomal recessive, Not applicable

Infantile neuroaxonal dystrophy

ORPHA:35069Ауру
Autosomal recessive

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 spasms-broad thumbs syndrome

ORPHA:3173Ауру

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

ORPHA:263410Ауру
Autosomal recessive

Infantile-onset X-linked spinal muscular atrophy

ORPHA:1145Ауру
X-linked recessive

Infantile-onset ascending hereditary spastic paralysis

ORPHA:293168Ауру
Autosomal recessive