XYLT1-CDG

Autosomal recessive

Infancy, Neonatal

Xanthinuria type I

Autosomal recessive

Xanthinuria type II

Autosomal recessive

Xanthoma disseminatum

Not applicable

Adolescent, Adult, Childhood

Xeroderma pigmentosum

Autosomal recessive

All ages

Xeroderma pigmentosum variant

Autosomal recessive

Adolescent, Adult

Xeroderma pigmentosum-Cockayne syndrome complex

Autosomal recessive

Infancy, Neonatal

Xp21 deletion syndrome

Infancy, Neonatal

Xp22.13p22.2 duplication syndrome

X-linked recessive

Infancy, Neonatal

Xp22.3 microdeletion syndrome

Not applicable

Neonatal

Xq12-q13.3 duplication syndrome

X-linked recessive

Infancy, Neonatal

Xq21 microdeletion syndrome

X-linked recessive

Infancy, Neonatal

Xq25 microduplication syndrome

Childhood, Infancy

Xq27.3q28 duplication syndrome

X-linked recessive

Infancy, Neonatal

Yellow fever

All ages

Yolk sac tumor

Not applicable

Adolescent, Adult

Young adult-onset distal hereditary motor neuropathy

Autosomal recessive

Adult

Young syndrome

Unknown

Adult

Young-onset Parkinson disease

Autosomal recessive

Adult

Yunis-Varon syndrome

Autosomal recessive

Antenatal, Neonatal

ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome

Autosomal dominant

ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion

Autosomal dominant

ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation

Autosomal dominant

ZTTK syndrome

Autosomal dominant

Neonatal