Rare Disease Library

Indomethacin embryofetopathy

Fetal indomethacin syndrome

Infant acute respiratory distress syndrome

Hyaline membrane disease · Infant ARDS

Infant botulism

Infant intestinal botulism · Infant intestinal toxemia botulism

Infant-type hemispheric glioma

IHG

Infantile apnea

Apnea of infancy · Apnea in full-term infants

Infantile bilateral striatal necrosis

IBSN · Infantile striatonigral degeneration

Infantile cerebellar-retinal degeneration

Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

Infantile choroidocerebral calcification syndrome

Infantile CLN1 disease

Infantile neuronal ceroid lipofuscinosis type 1

Infantile CLN2 disease

Infantile neuronal ceroid lipofuscinosis type 2

Infantile convulsions and choreoathetosis

ICCA syndrome · Paroxysmal kinesigenic dyskinesia and infantile convulsions

Infantile digital fibromatosis

Inclusion body fibromatosis · Recurring digital fibrous tumor of childhood

Infantile dystonia-parkinsonism

Dopamine transporter deficiency syndrome · IPD

Infantile epileptic spasms syndrome

IESS

Infantile epileptic-dyskinetic encephalopathy

Infantile glycine encephalopathy

Infantile NKH · Infantile non-ketotic hyperglycinemia

Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

COXPD16 · Combined oxidative phosphorylation defect type 16

Infantile hypophosphatasia

Infantile phosphoethanolaminuria · Infantile Rathbun disease

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

Baker-Gordon syndrome · SYT1-related neurodevelopmental disorder

Infantile inflammatory bowel disease with neurological involvement

Infantile Krabbe disease

Krabbe disease, classic form · Krabbe disease, early-onset

Infantile LAD-like disease due to RAC2 deficiency

Infantile leukocyte adhesion deficiency due to Rac family small GTPase 2 deficiency

Infantile mercury poisoning

Erythroedema polyneuritis · Feer disease

Infantile multisystem neurologic-endocrine-pancreatic disease

IMNEPD

Infantile myofibromatosis

Infantile nephronophthisis

Autosomal recessive infantile NPHP · Autosomal recessive infantile nephronophthisis

Infantile nephropathic cystinosis

Infantile neuroaxonal dystrophy

INAD · INAD1

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

HPDL-related infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome · HPDL-related Leigh-like encephalopathy

Infantile neurovisceral acid sphingomyelinase deficiency

Infantile neurovisceral ASMD · Niemann-Pick disease type A

Infantile onset panniculitis with uveitis and systemic granulomatosis

Infantile osteopetrosis with neuroaxonal dysplasia

Infantile Refsum disease

IRD · Mild peroxisome biogenesis disorder-Zellweger spectrum disorder

Infantile spasms-broad thumbs syndrome

Tsao-Ellingson syndrome

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

Infantile systemic hyalinosis

Infantile-onset ascending hereditary spastic paralysis

IAHSP

Infantile-onset autosomal recessive nonprogressive cerebellar ataxia

Autosomal recessive spinocerebellar ataxia type 6 · SCAR6

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

Axonal neuropathy-optic atrophy-cognitive deficit syndrome · ANOAC

Infantile-onset generalized dyskinesia with orofacial involvement

Infantile-onset orofacial-trunk-limbs dyskinesia

Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression

Infantile-onset periodic fever-panniculitis-dermatosis syndrome

OTULIN-related autoinflammatory syndrome · OTULIN deficiency

Infantile-onset spinocerebellar ataxia

IOSCA · Ohaha syndrome

Infantile-onset X-linked spinal muscular atrophy

Kugelberg-Welander disease · SMA

Infection-related hemolytic uremic syndrome

Infection-related HUS

Infectious anterior uveitis

Infectious disease of the nervous system