MEDLIB
Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Infantile CLN2 disease

ORPHA:699751Клин. под.
Autosomal recessive

Infantile Krabbe disease

ORPHA:206436Клин. под.
Autosomal recessive

Infantile LAD-like disease due to RAC2 deficiency

ORPHA:183707Ауру
Autosomal dominant

Infantile Refsum disease

ORPHA:772Ауру
Autosomal recessive

Infantile apnea

ORPHA:70590Ауру

Infantile bilateral striatal necrosis

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

Infantile cerebellar-retinal degeneration

ORPHA:313850Ауру
Autosomal recessive

Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

ORPHA:402364Мальф.
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 glycine encephalopathy

ORPHA:289860Клин. под.
Autosomal recessive

Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

ORPHA:352563Ауру
Autosomal recessive

Infantile hypophosphatasia

ORPHA:247651Клин. под.
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 nephronophthisis

ORPHA:93591Клин. под.
Autosomal recessive

Infantile nephropathic cystinosis

ORPHA:411629Клин. под.
Autosomal recessive

Infantile neuroaxonal dystrophy

ORPHA:35069Ауру
Autosomal recessive