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

Parents (13)

• 85995004Autosomal recessive hereditary disorder disorder
• 363070008Developmental hereditary disorder disorder
• 84757009Epilepsy disorder
• 224958001Global developmental delay disorder
• 106018006Hereditary degenerative disease of central nervous system disorder
• 1144640007Hypomyelination of central nervous system structure disorder
• 4702003Inherited disorder of folate metabolism disorder
• 128190004Inherited metabolic disorder of nervous system disorder
• 301766008Lesion of brain disorder
• 192781003Leucodystrophy disorder
• 1148757008Microcephaly finding
• 82354003Multiple system malformation syndrome disorder
• 237836003Short stature disorder disorder

Children (0)

None (leaf concept).