MSH3-related polyposis

Autosomal recessive

Neonatal

MT-ATP6-related mitochondrial spastic paraplegia

Mitochondrial inheritance

Adult

MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome

Autosomal recessive

Antenatal, Infancy, Neonatal

MUC1-related autosomal dominant tubulointerstitial kidney disease

Autosomal dominant

Adult

MUTYH-related polyposis

Autosomal dominant, Autosomal recessive

Adult

MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome

Autosomal recessive

Neonatal

MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome

Autosomal dominant

Childhood

MYH9-related syndromic thrombocytopenia

Autosomal dominant

Adolescent, Adult, Childhood, Infancy, Neonatal

MYO5B-related progressive familial intrahepatic cholestasis

Autosomal recessive

Neonatal

MYT1L-related developmental delay-intellectual disability-obesity syndrome

Autosomal dominant

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

Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome

Autosomal dominant

Neonatal

Macrocephaly-developmental delay syndrome

Autosomal recessive

Neonatal

Macrocephaly-intellectual disability-autism syndrome

Autosomal dominant

Infancy, Neonatal

Macrocephaly-intellectual disability-left ventricular non compaction syndrome

X-linked recessive

Infancy

Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

Autosomal dominant

Infancy, Neonatal

Macrocephaly-short stature-paraplegia syndrome

Unknown

Adult

Macrocephaly-spastic paraplegia-dysmorphism syndrome

Autosomal recessive

Childhood

Macrocystic lymphatic malformation

Not applicable

Infancy, Neonatal

Macrodactyly of fingers

Infancy, Neonatal

Macrodactyly of fingers, unilateral

Autosomal dominant

Macrodactyly of toes

Infancy, Neonatal