MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Infantile CLN2 disease

ORPHA:699751Clin. sub.
Autosomal recessive

Infantile Krabbe disease

ORPHA:206436Clin. sub.
Autosomal recessive

Infantile LAD-like disease due to RAC2 deficiency

ORPHA:183707Disease
Autosomal dominant

Infantile Refsum disease

ORPHA:772Disease
Autosomal recessive

Infantile apnea

ORPHA:70590Disease

Infantile bilateral striatal necrosis

ORPHA:1576Clin. grp.
Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, Not applicable

Infantile cerebellar-retinal degeneration

ORPHA:313850Disease
Autosomal recessive

Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

ORPHA:402364Malform.
Autosomal recessive

Infantile choroidocerebral calcification syndrome

ORPHA:1313Disease
Autosomal recessive

Infantile digital fibromatosis

ORPHA:199267Disease

Infantile dystonia-parkinsonism

ORPHA:238455Disease
Autosomal recessive

Infantile epileptic spasms syndrome

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

Infantile epileptic-dyskinetic encephalopathy

ORPHA:364063Disease
X-linked recessive

Infantile glycine encephalopathy

ORPHA:289860Clin. sub.
Autosomal recessive

Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

ORPHA:352563Disease
Autosomal recessive

Infantile hypophosphatasia

ORPHA:247651Clin. sub.
Autosomal recessive

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

ORPHA:522077Disease
Autosomal dominant

Infantile inflammatory bowel disease with neurological involvement

ORPHA:565788Disease
Autosomal recessive

Infantile mercury poisoning

ORPHA:247165Disease
Not applicable

Infantile multisystem neurologic-endocrine-pancreatic disease

ORPHA:456312Disease
Autosomal recessive

Infantile myofibromatosis

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

Infantile nephronophthisis

ORPHA:93591Clin. sub.
Autosomal recessive

Infantile nephropathic cystinosis

ORPHA:411629Clin. sub.
Autosomal recessive

Infantile neuroaxonal dystrophy

ORPHA:35069Disease
Autosomal recessive