Rare Disease Library

Oculootodental syndrome

OOD

Odonto-onycho-dermal dysplasia

OODD

Acute necrotizing encephalopathy of childhood

ANEC · Isolated ANE

Alternating hemiplegia of childhood

AHC

Autoinflammatory syndrome of childhood

Autosomal dominant childhood-onset proximal spinal muscular atrophy

Kugelberg-Welander disease · Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy

Autosomal recessive lower motor neuron disease with childhood onset

Autosomal recessive distal spinal muscular atrophy type 4 · Distal spinal muscular atrophy type 4

Benign nocturnal alternating hemiplegia of childhood

Benign paroxysmal tonic upgaze of childhood with ataxia

Ouvrier-Billson syndrome

BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy

BICD2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures · Kugelberg-Welander disease

Bulbospinal muscular atrophy of childhood

Kugelberg-Welander disease · SMA

Childhood absence epilepsy

Pyknolepsy

Childhood disintegrative disorder

Heller syndrome · Dementia infantilis

Childhood encephalopathy due to thiamine pyrophosphokinase deficiency

Childhood occipital visual epilepsy

COVE · Idiopathic chilldhood occipital epilepsy-Gastaut type

Childhood-onset autosomal recessive myopathy with external ophthalmoplegia

Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia

Autosomal recessive spinocerebellar ataxia type 7 · SCAR7

Childhood-onset basal ganglia degeneration syndrome

Lenk-Ploski syndrome

Childhood-onset benign chorea with striatal involvement

Childhood-onset common variable immunodeficiency due to ARHGEF1 deficiency

Childhood-onset CVID phenotype due to ARHGEF1 deficiency · Childhood-onset common variable immunodeficiency phenotype due to Rho guanine nucleotide exchange factor 1 deficiency

Childhood-onset epilepsy syndrome

Childhood-onset hypophosphatasia

Childhood-onset phosphoethanolaminuria · Childhood-onset Rathbun disease

Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder

CONDBA

Childhood-onset nemaline myopathy

Mild nemaline myopathy

Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome

Childhood-onset schizophrenia

COS · Very early-onset schizophrenia

Childhood-onset spasticity with hyperglycinemia

Childhood-onset spasticity with variant non-ketotic hyperglycinemia · Spasticity-ataxia-gait anomalies syndrome

Childhood-onset Steinert myotonic dystrophy

Childhood-onset Steinert disease · Childhood-onset myotonic dystrophy type 1

CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome

Cystadenoma of childhood

Cystadenoma of ovary in childhood

Dermoodontodysplasia

DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy

DYNC1H1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy · Kugelberg-Welander disease

Ectodermal dysplasia, trichoodontoonychial type

Foodborne botulism

Intoxication botulism

Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form

GBE deficiency, childhood combined hepatic and myopathic form · GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form

Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form

GBE deficiency, childhood neuromuscular form · GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form

Goodman syndrome

ACPS4 · Acrocephalopolysyndactyly type 4

Granulomatous arthritis of childhood

Autoinflammatory granulomatosis of childhood · Granulomatous inflammatory arthritis, dermatitis, and uveitis

Granulomatous autoinflammatory syndrome of childhood

Hereditary North American Indian childhood cirrhosis

Interstitial lung disease in childhood and adulthood

ILD in childhood and adulthood

Interstitial lung disease specific to adulthood

ILD specific to adulthood

Interstitial lung disease specific to childhood

ILD specific to childhood

Isolated childhood apraxia of speech

Isolated developmental verbal dyspraxia · Pure childhood apraxia of speech

Lowry-Wood syndrome

Epiphyseal dysplasia-microcephaly-nystagmus syndrome

Matthew-Wood syndrome

Spear syndrome · Anophthalmia-pulmonary hypoplasia syndrome

Mucinous cystadenoma of childhood

Mucinous cystadenoma of ovary in childhood

OBSOLETE: Autosomal dominant childhood-onset cortical cataract

OBSOLETE: Autosomal dominant childhood-onset progressive cortical cataract