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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)
  1. WES whole exome sequencing, CMA chromosomal microarray
  2. aConsequence Sanger sequencing for ARSA and GLB1 was performed after final diagnosis through enzyme assay for genetic counseling