Lethal neonatal spasticity-epileptic encephalopathy syndrome

Autosomal recessive

Neonatal

Lethal occipital encephalocele-skeletal dysplasia syndrome

Autosomal recessive

Infancy, Neonatal

Lethal omphalocele-cleft palate syndrome

Autosomal recessive

Antenatal, Neonatal

Lethal polymalformative syndrome, Boissel type

Autosomal recessive

Infancy, Neonatal

Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome

Antenatal, Neonatal

Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation

Autosomal recessive

Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster

Lethal recessive chondrodysplasia

Autosomal recessive

Infancy, Neonatal

Letrozole toxicity

All ages

Leukocyte adhesion deficiency

Autosomal recessive

Childhood, Infancy

Leukocyte adhesion deficiency type I

Autosomal recessive

Childhood, Infancy

Leukocyte adhesion deficiency type II

Autosomal recessive

Childhood, Infancy

Leukocyte adhesion deficiency type III

Autosomal recessive

Childhood, Infancy

Leukoencephalopathy with bilateral anterior temporal lobe cysts

Unknown

Infancy, Neonatal

Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

Autosomal recessive

Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal

Leukoencephalopathy with calcifications and cysts

Autosomal recessive

Adolescent, Adult, Childhood, Infancy

Leukoencephalopathy with mild cerebellar ataxia and white matter edema

Autosomal recessive

All ages

Leukoencephalopathy-dystonia-motor neuropathy syndrome

Autosomal recessive

Childhood

Leukoencephalopathy-palmoplantar keratoderma syndrome

Autosomal recessive

Childhood

Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome

X-linked recessive

Childhood, Infancy

Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome

No data available

Infancy, Neonatal

Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome

Autosomal recessive

Neonatal

Leukonychia totalis

Autosomal dominant, Autosomal recessive

Neonatal

Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome

Autosomal dominant

Infancy, Neonatal