Leydig cell hypoplasia due to complete LH resistance

Autosomal recessive

Neonatal

Leydig cell hypoplasia due to partial LH resistance

Autosomal recessive

Neonatal

Lhermitte-Duclos disease

Autosomal dominant, Not applicable

Adult

Limited cutaneous systemic sclerosis

Multigenic/multifactorial, Not applicable

Adult

Limited systemic sclerosis

Not applicable

Adult

Lissencephaly syndrome, Norman-Roberts type

Autosomal recessive

Infancy, Neonatal

Lobar holoprosencephaly

Multigenic/multifactorial, Not applicable

Infancy, Neonatal

Localized dystrophic epidermolysis bullosa, acral form

Autosomal dominant, Autosomal recessive

Infancy, Neonatal

Localized dystrophic epidermolysis bullosa, nails only

Autosomal dominant, Autosomal recessive

Infancy, Neonatal

Localized dystrophic epidermolysis bullosa, pretibial form

Autosomal dominant, Autosomal recessive

Infancy, Neonatal

Localized lichen myxedematosus with mixed features of different subtypes

Adult, Elderly

Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms

Adult, Elderly

Lymphocytic hypereosinophilic syndrome

All ages

Lymphoplasmacytic inflammatory pseudotumor of the liver

Adult, Elderly

MASA syndrome

X-linked recessive

Neonatal

MUC1-related autosomal dominant tubulointerstitial kidney disease

Autosomal dominant

Adult

MYO5B-related progressive familial intrahepatic cholestasis

Autosomal recessive

Neonatal

Machado-Joseph disease type 1

Autosomal dominant

Adult, Childhood

Machado-Joseph disease type 2

Autosomal dominant

Adult

Machado-Joseph disease type 3

Autosomal dominant

Adult

Macrodactyly of fingers, unilateral

Autosomal dominant

Macrodactyly of toes, unilateral

Autosomal dominant

Male infertility due to acephalic spermatozoa

Autosomal recessive

Adult

Male infertility due to globozoospermia

Autosomal recessive

Adult