Early-onset inflammatory bowel disease-ulcerative skin lesions-immunodeficiency syndrome

Autosomal recessive

Early-onset lamellar cataract

Autosomal dominant

Early-onset myopathy with fatal cardiomyopathy

Autosomal recessive

Infancy, Neonatal

Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome

Autosomal recessive

Infancy, Neonatal

Early-onset nuclear cataract

Autosomal dominant, Autosomal recessive, X-linked recessive

Infancy, Neonatal

Early-onset obesity-hyperphagia-severe developmental delay syndrome

Autosomal dominant

Early-onset parkinsonism-intellectual disability syndrome

X-linked recessive

Infancy

Early-onset partial cataract

Autosomal dominant, Autosomal recessive, X-linked recessive

Infancy, Neonatal

Early-onset posterior polar cataract

Autosomal dominant

Infancy, Neonatal

Early-onset posterior subcapsular cataract

Autosomal dominant, Autosomal recessive

Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

Autosomal recessive

Infancy, Neonatal

Early-onset progressive encephalopathy with migrant continuous myoclonus

Unknown

Childhood

Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome

Autosomal recessive

Neonatal

Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome

Autosomal recessive

Infancy, Neonatal

Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome

Autosomal recessive

No data available

Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome

Autosomal recessive

Childhood

Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome

Autosomal recessive

Infancy

Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency

Autosomal recessive

Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome

Autosomal recessive

Childhood

Early-onset sutural cataract

Autosomal dominant

Infancy, Neonatal

Early-onset zonular cataract

Autosomal dominant, Autosomal recessive, X-linked recessive

Infancy, Neonatal

East Texas bleeding disorder

Autosomal dominant

Childhood

Eastern equine encephalitis

Not applicable

All ages

Eating reflex epilepsy

All ages