Table 3 Phenotypes and genotypes of positive cases
From: The Korean undiagnosed diseases program: lessons from a one-year pilot project
No. | Gender/age | Clinical presentation | Diagnostic test | Genotype | Associated disease (MIM number.) |
|---|---|---|---|---|---|
1 | M/7.9 | Global developmental delay, microcephaly, facial dysmorphism, photosensitivity | WES, proband | ERCC5, c.1627-2A > G | Cockayne syndrome (MIM #278780) |
2 | F/3.9 | Developmental delay, myopathic face | Single gene | FKTN, c.165 + 835 T > G/c.49A > C | Muscular dystrophy-dystroglycanopathy (MIM #253800) |
3a | M/5.4 | Gait abnormality | Enzyme assay | ARSA, c.1107 + 1delG/c.919A > C | Metachromatic leukodystrophy (MIM #250100) |
4 | M/17.8 | Seizure gait abnormality, intellectual disability | WES, proband | SLC2A1, c.276-1G > A | GLUT1 deficiency syndrome 2, childhood onset (MIM #612126) |
5a | F/2.2 | Global developmental delay | Enzyme assay | GLB1, c.1343A > T/c.517_519del | GM1-gangliosidosis, type I (MIM #230500) |
6 | M/1.6 | Congenital hypotonia | Single gene | MTM1, c.566A > G | Myotubular myopathy, X-linked (MIM #310400) |
7 | M/15.3 | Global developmental delay, seizure | CMA | 16p22.3 (29673954–30,119,759) 0.44 Mb deletion |  |
8 | M/9.5 | Paroxysmal dyskinesia | Singe gene | PRRT2, c.649dupC | Episodic kinesigenic dyskinesia (MIM #128200) |
9 | M/14.4 | Progressive dystonia, dysarthria, dysphagia | Single gene | ATP1A3, c.2305A > C | Dystonia-12 (MIM #128235) |
10 | M/9.0 | Congenital hypotonia, motor developmental delay, joint laxity | Targeted multi-gene panel | COL6A1, c.850G > A | Ullrich congenital muscular dystrophy, 1 (MIM #254090) |
11 | M/3.3 | Intrauterine ventriculomegaly, developmental delay, hypotonia | Targeted multi-gene panel | POMGNT1, c.1702T > C/c.9445dupT | Muscular dystrophy-dystroglycanopathy, type A, 3 (MIM #253280) |
12 | F/2.9 | Microcephaly, global developmental delay, hearing loss | CMA | 17p13.1 (7138534–8,151,307) 1 Mb deletion |  |
13 | M/3.0 | Global developmental delay, early onset seizure | Targeted multi-gene panel | SCN8A, c.3820G > A | Epileptic encephalopathy, early infantile, 13 (MIM #614558) |
14 | M/9.8 | Global developmental delay, seizure, abnormal skin lesion | WES, trio | RAB11B, c.64G > A | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (MIM #617807) |
15 | M/6.0 | Global developmental delay, dysmorphic face, sparse hair, anhydrosis, dental anomaly | WES, proband | EDA, c.1045G > A | Ectodermal dysplasia 1, hypohidrotic, X-linked (MIM #305100) |
16 | M/13.8 | Developmental regression, seizure, dystonia | WES, proband | CLN6, c.806C > T/c.184C > T | Ceroid lipofuscinosis, neuronal, 6 (MIM #601780) |
17 | F/11.9 | Global developmental delay, stereotyped hands movement, seizure | WES, trio | SLC6A1, c.1070 C > T | Myoclonic-atonic epilepsy (MIM #616421) |
18 | F/10.8 | Global developmental delay, dysmorphic face | WES, proband | NAA10, c.247C > T | Ogden syndrome (MIM #300855) |
19 | F/14.9 | Ataxia | WES, trio | POLR1C, c.698insAAG/c.713A > G | Leukodystrophy, hypomyelinating, 11 (MIM #616494) |
20 | F/7.5 | Recurrent infection, asthma, thrombocytopenia | WES, trio | NFKB2, c.2593_2594del | Immunodeficiency, common variable, 10 (MIM #615577) |
21 | M/3.3 | Neonatal seizure, developmental delay | WES, proband | ALDH7A1, c.1279G > C | Epilepsy, pyridoxine dependent (MIM #266100) |
22 | F/8.8 | Early onset seizure, global developmental delay, dysmorphic face | WES, trio | DNM1, c.709C > T | Epileptic encephalopathy, early infantile, 31 (MIM #616346) |
23 | F/3.2 | Progressive respiratory distress | WES, proband | SFTPC, c.203T > A | Surfactant metabolism dysfunction, pulmonary, 2 (MIM #610913) |
24 | F8.3 | Ataxia, seizure, progressive muscle weakness | mtDNA sequencing | m.8344A > G |  |
25 | M/22.3 | Progressive scoliosis, scapular deformity | Targeted multi-gene panel | GAA, c.T1316A/c.G2238C | Glycogen storage disease II (MIM #232300) |
26 | M/12.8 | Global developmental delay, failure to thrive, congenital heart disease | WES, trio | POC1A, c.241C > T/c.239C > T | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (MIM #614813) |
27 | F/8.6 | Congenital hypotonia, failure to thrive, bilateral hip dislocation, imperforated anus, congenital heart disease | WES, trio | HSPA9, c.383A > G/c.884_885del | Even-plus syndrome (MIM #616854) |
28 | M/15.7 | Tip toeing, slurred speech, pathologic reflexes | WES, proband | C19orf12, c.294del | Neurodegeneration with brain iron accumulation, 4 (MIM #614298) |