MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Infantile CLN2 disease

ORPHA:699751Клин. подтип
Autosomal recessive

Infantile Krabbe disease

ORPHA:206436Клин. подтип
Autosomal recessive

Infantile LAD-like disease due to RAC2 deficiency

ORPHA:183707Заболевание
Autosomal dominant

Infantile Refsum disease

ORPHA:772Заболевание
Autosomal recessive

Infantile apnea

ORPHA:70590Заболевание

Infantile bilateral striatal necrosis

ORPHA:1576Клин. группа
Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, Not applicable

Infantile cerebellar-retinal degeneration

ORPHA:313850Заболевание
Autosomal recessive

Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

ORPHA:402364Мальформация
Autosomal recessive

Infantile choroidocerebral calcification syndrome

ORPHA:1313Заболевание
Autosomal recessive

Infantile digital fibromatosis

ORPHA:199267Заболевание

Infantile dystonia-parkinsonism

ORPHA:238455Заболевание
Autosomal recessive

Infantile epileptic spasms syndrome

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

Infantile epileptic-dyskinetic encephalopathy

ORPHA:364063Заболевание
X-linked recessive

Infantile glycine encephalopathy

ORPHA:289860Клин. подтип
Autosomal recessive

Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

ORPHA:352563Заболевание
Autosomal recessive

Infantile hypophosphatasia

ORPHA:247651Клин. подтип
Autosomal recessive

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

ORPHA:522077Заболевание
Autosomal dominant

Infantile inflammatory bowel disease with neurological involvement

ORPHA:565788Заболевание
Autosomal recessive

Infantile mercury poisoning

ORPHA:247165Заболевание
Not applicable

Infantile multisystem neurologic-endocrine-pancreatic disease

ORPHA:456312Заболевание
Autosomal recessive

Infantile myofibromatosis

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

Infantile nephronophthisis

ORPHA:93591Клин. подтип
Autosomal recessive

Infantile nephropathic cystinosis

ORPHA:411629Клин. подтип
Autosomal recessive

Infantile neuroaxonal dystrophy

ORPHA:35069Заболевание
Autosomal recessive