ICD-10: E75.27

monogenic disease obsolete genetic disorder congenital disorder of glycosylation type I congenital disorder of glycosylation type II ABCD syndrome anauxetic dysplasia 1 electroclinical syndrome neonatal period electroclinical syndrome infancy electroclinical syndrome childhood electroclinical syndrome variable age at onset electroclinical syndrome AGAT deficiency ornithine translocase deficiency serine deficiency PSAT deficiency PSPH deficiency X-linked monogenic disease autosomal recessive disease Y-linked monogenic disease autosomal genetic disease obsolete paramyloidosis adenylosuccinase lyase deficiency ARC syndrome cerebral creatine deficiency syndrome orotic aciduria infantile cerebellar-retinal degeneration syndromic intellectual disability spastic ataxia 2 spastic ataxia 4 X-linked hereditary ataxia hypomyelinating leukoencephalopathy recombinase activating gene 2 deficiency lambda 5 deficiency akinetopsia Van Maldergem syndrome MASA syndrome Smith-McCort dysplasia omodysplasia autosomal dominant intellectual developmental disorder autosomal recessive intellectual developmental disorder CEDNIK syndrome ciliopathy chromosome 2p12-p11.2 deletion syndrome chromosome 2q31.2 deletion syndrome chromosome 3q13.31 deletion syndrome chromosome 19p13.13 deletion syndrome chromosomal duplication syndrome chromosome 16p13.3 duplication syndrome chromosome 17q21.31 duplication syndrome stromal dystrophy MEDNIK syndrome 3MC syndrome 1 3MC syndrome 2 3MC syndrome 3 obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum adult-onset autosomal dominant demyelinating leukodystrophy hypomyelinating leukodystrophy hypomyelinating leukodystrophy 13 syndromic X-linked intellectual disability 17 syndromic X-linked intellectual disability 7 syndromic X-linked intellectual disability Siderius type syndromic X-linked intellectual disability 34 syndromic X-linked intellectual disability Abidi type syndromic X-linked intellectual disability 14 Christianson syndrome Pelizaeus-Merzbacher disease