Table 2.
All 43 positive diagnoses and management categories
| ID | Sex | Age (year/months) | Diagnosis (OMIM) | Gene | Management Category | R | D | P | S | L | M | O |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| U001 | F | 1 yr/9 mo | Mental retardation, X-linked 102 (OMIM #300958) | DDX3X | Category 3 | |||||||
| U003 | M | 1 yr/1 mo | Alpha-thalassemia/mental retardation syndrome, X-linked (OMIM #301040) | ATRX | Category 1 | ● | ● | ● | ● | |||
| U004 | F | 6 yr/4 mo | Epilepsy, focal, with speech disorder with or without mental retardation (OMIM #245570) | GRIN2A | Category 2 | ● | ||||||
| U005 | M | 0 yr/11 mo | Fanconi anaemia, complementation group A (OMIM #227650) | FANCA | Category 1 | ● | ● | ● | ● | |||
| U006 | M | 1 yr/11 mo | Schuss–Hoeijmakers sydnrome (OMIM #615009) | PACS1 | Category 1 | ● | ● | ● | ||||
| U010 | F | 9 yr/9 mo | Axenfeld–Rieger syndrome, type 3 (OMIM #602482) | FOXC1 | Category 3 | ● | ||||||
| U012 | F | 2 yr/4 mo | 10q26 microdeletion syndrome (OMIM #609623) | 10q26.2-qter deletion | Category 2 | ● | ||||||
| U015 | M | 11 yr/10 mo | Coffin-Siris syndrome 1 (OMIM #135900) | ARID1B | Category 1 | ● | ● | ● | ||||
| U017 | M | 33 yr/3 mo | Autosomal recessive; Spastic paraplegia 11, autosomal recessive (OMIM #604360) | SPG11 | Category 2 | ● | ||||||
| U023 | F | 2 yr/11 mo | Beta-ueridopropionase deficiency (OMIM #613161) | UPB1 | Category 2 | ● | ||||||
| U025 | F | 20 yr/1 mo | Bainbridge–Ropers syndrome (OMIM# 615485) | ASXL3 | Category 2 | ● | ● | |||||
| U027 | M | 1 yr/2 mo | Shwachman–Bodian–Diamond syndrome (OMIM #260400) | SBDS | Category 1 | ● | ● | ● | ● | ● | ||
| U028 | M | 2 yr/6 mo | Coenzyme Q10 deficiency, primary, 7 (OMIM #616276) | COQ4 | Category 2 | ● | ||||||
| U030 | M | 1 yr/3 mo | Coffin-Siris syndrome 2 (OMIM # 614607) | ARID1A | Category 1 | ● | ● | ● | ||||
| U031 | F | 11 yr/8 mo | Hyperphosphatasia with mental retardation syndrome (HMRS) 2 (OMIM #614730) | PIGO | Category 2 | ● | ||||||
| U033 | F | 5 yr/0 mo | X-linked congenital disorder of glycosylation type Iim (OMIM #300896) | SLC35A2 | Category 3 | |||||||
| U039 | F | 7 yr/11 mo | Rubinstein–Taybi syndroom type 1 (OMIM #180849) | CREBBP | Category 1 | ● | ● | |||||
| U040 | F | 8 yr/3 mo | Bainbridge–Ropers syndrome (OMIM# 615485) | ASXL3 | Category 2 | ● | ● | |||||
| U042 | F | 13 yr/3 mo | Early Infantile Epileptic Encephalopathy (OMIM #612164) | STXBP1 | Category 1 | ● | ● | |||||
| U044 | M | 0 yr/1 mo | Noonan syndrome-like disorder with loose anagen hair 2 (OMIM #617506) | PPP1CB | Category 1 | ● | ● | ● | ||||
| U049 | M | 0 yr/1 mo | Cutis laxa, autosomal recessive, type IID (OMIM #617403) | ATP6V1A | Category 3 | ● | ||||||
| U050 | M | 4 yr/0 mo | Lenz–Majewski hyperostotic dwarfism (LMHD) (OMIM #151050) | PTDSS1 | Category 2 | ● | ● | ● | ||||
| U052 | M | 4 yr/3 mo | Autosomal recessive agenesis of the corpus callosum with peripheral neuropathy (OMIM #218000) | SLC12A6 | Category 3 | |||||||
| U055 | M | 5 yr/10 mo | Wieacker–Wolff syndrome, X-linked recessive (OMIM #314580) | ZC4H2 | Category 3 | |||||||
| U062 | F | 5 yr/4 mo | Neurodevelopmental disorder a.o. Rett syndrome (OMIM #312750) | MECP2 | Category 1 | ● | ● | ● | ||||
| U063 | M | 8 yr/6 mo | Congenital megaconial muscular dystrophy (OMIM #602541) | CHKB | Category 2 | ● | ● | ● | ||||
| U068 | M | 10 yr/8 mo | Okur–Chung neurodevelopmental syndrome (OMIM #617062) | CSNK2A1 | Category 3 | |||||||
| U069 | M | 4 yr/1 mo | Mental retardation, autosomal dominant 31 (OMIM #616158) | PURA | Category 3 | ● | ● | |||||
| U074 | M | 0 yr/8 mo | Pallister–Killian syndrome (OMIM #601803) | 12p13.33-p11.1 duplication | Category 2 | ● | ● | |||||
| U076 | M | 1 yr/3 mo | Keratitis-ichthyosis-deafness syndrome (OMIM #148210) | GJB2 | Category 2 | ● | ● | ● | ||||
| U080 | F | 3 yr/8 mo | Mental retardation, X-linked 102 (OMIM #300958) | DDX3× | Category 3 | |||||||
| U081 | M | 4 yr/1 mo | Desanto–Shinawi syndrome (OMIM #616708) | WAC | Category 2 | ● | ||||||
| U083 | F | 8 yr/5 mo | X-linked dominant Neurodegeneration with Brain Iron Accumulation 5, NBIA5 (OMIM #300894) | WDR45 | Category 2 | ● | ● | |||||
| U084 | F | 16 yr/11 mo | Spinal muscular atrophy, lower extremity-predominant 1, AD (OMIM #158600) | DYNC1H1 | Category 2 | ● | ● | |||||
| U087 | F | 6 yr/10 mo | Auriculocondylar syndrome 1 (OMIM #602483) | GNAI3 | Category 2 | ● | ||||||
| U089 | F | 17 yr/5 mo | Hereditary sensory and autonomic neuropathy type IV (HSAN IV) | NTRK1 | Category 2 | ● | ● | |||||
| U090 | M | 4 yr/2 mo | Costello syndrome (OMIM #218040) | HRAS | Category 1 | ● | ● | ● | ● | |||
| U092 | F | 2 yr/6 mo | Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects (OMIM #615120) | AGRN | Category 2 | ● | ● | ● | ||||
| U098 | M | 6 yr/6 mo | Charcot–Marie–Tooth disease, axonal, type 2S (OMIM #616155) | IGHMBP2 | Category 2 | ● | ||||||
| U099 | M | 1 yr/4 mo | Nicolaides–Baraitser syndrome (OMIM #601358) | SMARCA2 | Category 1 | ● | ||||||
| U100 | M | 6 yr/0 mo | Mental retardation, autosomal dominant 7 (OMIM #614104) | DYRK1A | Category 1 | ● | ||||||
| U102 | M | 9 yr/9 mo | Dystonia 28, childhood-onset (OMIM #617284) | KMT2B | Category 2 | ● | ● | ● | ||||
| U103 | M | 0 yr/4 mo | Aarskog–Scott syndrome (OMIM #305400) | FGD1 | Category 3 | ● | ● | |||||
| Total | 19 | 16 | 3 | 23 | 6 | 12 | 1 |
Details of each management category are given in Supplementary Table 2
R Referral, D Diagnostic testing, P Procedure, S Surveillance, M Medication, L Lifestyle changes, O Others