Case | Age | Region | OMIM Phenotype (number) | Comment | Type/Size | Inheritance | Genes involved | Likely pathogenic genes | Intellectual Disability | Developmental Delay | Dysmorphic features | Other findings |
---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | 1,5 y | chr1:849466–3,152,968 | 1p36 deletion syndrome (607872) | Path | Del 2.3 Mb | De novo | 76 | DVL1, ATAD3A, GNB1, GABRD, SKI, PEX10, PRDM16 | N/A | + | prominent forehead, pointed chin, deep-set eyes, straight eyebrows | dilated cardiomyopathy, epilepsy |
2 | 4 m | chr1:145927661–148,588,367 | 1q21.1 deletion syndrome (612474) | Path | Del 2.6 Mb | Mot her | 31 | NBPF10, HYDIN2, NBPF12, PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, NBPF11, PPIAL4A, NBPF14, NBPF9 | N/A | N/A | wide nasal bridge, bulbous nose and retrognathia. | pectoral muscle hypoplasis, radius and humerus hypoplasis, short and curved ribs |
3 | 6 y | chr1:145607915–146,497,779 | UCS/L-Path | Del 0.9 Mb | De novo | 14 | GPR89A, PDZK1, CD160, POLR3C, NBPF12 | + | + | strabismus, hypertelorism | congenital hypothyroidism | |
4 | 2,5y | chr2:10266562–16,826,500 | Path | Dup 6.5 Mb | De novo | 20 | ODC1, LPIN1, MYCN, NBAS, | N/A | + | prominent forehead, retrognathia, broad eyelashes, cupped ear, uplifted lobe | dysplastic aortic valve, hydrocephalus, cerebral atrophy | |
5 | 8 m | chr2:222686398–226,097,873 | Path | Del 3.4 Mb | De novo | 16 | PAX3, AP1S3, MRPL44, CUL3 | N/A | + | prominent forehead, hypoplastic alae nasi, epicanthal fold | ||
6 | 14,5 y | chr6:6806969–13,794,521 | Path | Del 6.9 Mb | De novo | 46 | DSP, TFAP2A, GCNT2, MAK, GCM2, EDN1, TBC1D7 | + | + | dolicocephaly, facial asymmetry, open mouth, depressed nasal tip, absent ear lobe, | atrial septal defect, bilateral cleft lip | |
7 | 8,5 y | chr6:70373236–79,654,154, chr8:78808754–81,835,864 | Path Path | Del 9.2 Mb/Del 3 Mb | De novo | 49 | LMBRD1, COL9A1, RIMS1, KCNQ5, KHD3CL, MYO6,MTO1, SLC17A5, COL12A1,IMOG1 | + | + | long face, wide mouth, high arched palate | potent ductus arteriosus, renal agenesis, pes equinovarus | |
8 | 4 m | chr6:151310706–170,919,482 | Path | Del 19.6 Mb | De novo | 115 | SYNE1,ESR1, ARİD1B, LPA, PDE10A,T, ERMARD,TBP, | N/A | + | sunset eye sign, low set ears, pointed chin | hydrocephalus, cerebral atrophy | |
9 | 1 m | chr6:163378290–16,709,184, chr6:160713926–16,287,570, chr6:141494387–144,877,906 | Path UCS/L-Path Path | Dup 3.7 Mb Del 2.1 Mb Del 3.3 Mb | De novo | 17 8 19 | PACRG, QKI, PDE10A, T, MPC1, RPS6KA2, SLC22A3, LPAL2, LPA, PLG, MAP3K4, AGPAT4, PARK2, NMBR, VTA1, GPR126, HIVEP2, AIG1, PEX3, PLAGL1, HYMAI, STX11, UTRN | N/A | + | upslanting palpebral fissures, round face | neonatal diabetus, hypotonia, deafness | |
10 | 9 y | chr14:103255460–107,285,437 | Path | Del 4 Mb | De novo | 56 | TRAF3, APOPT1, RCC3, INF2, AKT1, BRF1,IGHM | + | + | long face, pointed chin, anterverted ears, epicanthal fold | – | |
11 | 11,5 y | chr14:99528241–107,285,437 | Path | Dup 7.7 Mb | De novo | 183 | YY1, DYNC1H1, TECPR2, APOPT1, XRCC, ADSSL1, AKT1, ZBTB42, BRF1, IGHG2, | + | + | facial asymmetry, downslanting palpebral fissures, prognathism, macrocephaly | strabismus, ptosis, | |
12 | 5 y | chr15:22770421–30,295,864 | Path | Dup 7.5 Mb | De novo | 131 | MKRN3, MAGEL2, NDN, SNRPN,UBE3A,GABRB3,OCA2, HER2 | + | + | hypertelorism, depressed nasal bridge, | unilateral deafness, autism spectrum disorder | |
13 | 6 y | chr15:22770421–23,276,605 | UCS/L-Path | Del 0.5 Mb | De novo | 7 | NIPA1, NIPA2, CYFIP1, TUBGCP5 | + | + | hypertelorism, short palpebral fissures, blepharophimosis | corpus callosum agenesis, hypothyroidism | |
14 | 15 y | chr16:89342189–89,552,394 | KBG Syndrome (148050) | Path | Del 0.2 Mb | De novo | 2 | ANKRD11 | + | + | long and triangular face structure, large, protruding ears | degenerative myopia |
15 | 13,5 y | chr18:136226–6,992,327 | Path | Del 6.8 Mb | De novo | 41 | SMCHD1, LPIN2, TGIF1, LAMA1 | + | + | hypertelorism, broad nasal bridge | obesity | |
16 | 10 y | chr18:59720983–78,014,123 | Path | Del 18.2 Mb | De novo | 72 | PIGN,TNFRSF11A, BCL2, KDSR, SERPINB7, RTTN, CYB5A, TSHZ1, CTDP1, XNL4A | + | + | frontal bossing, deep set eyes, depressed nasal bridge | sensorineural deafness, strabismus | |
17 | 3 y | chr18:67847004–70,771,041 | UCS/L-Path | Del 2.9 Mb | De novo | 6 | RTTN, SOCS6, CBLN2, NETO1 | N/A | – | hypertelorism, broad nasal bridge | autism spectrum disorder | |
18 | 13 y | chr18:65852206–76,107,497 | Path | Del 10 Mb | De novo | 32 | RTTN, SOCS6, CBLN2, NETO1, CYB5A, TSHXZ1, GALR1 | + | + | frontal bossing, deep set eyes, protruding ears | feeding difficulties | |
19 | 9 m | chr19:11284538–13,555,660 | UCS/L-Path | Del 2.2 Mb | De novo | 78 | KANK2, DOCK6, EPOR, PRKCSH, ACP5, MAN2B1, RNASEH2A, KLF1, CALR, NFIX, LYL1, NACC1, CACNA1A | N/A | + | deep set eyes, micrognatia | hypotonia | |
20 | 5 y | chr22:18917030–21,465,662 | DiGeorge syndrome (188400) | Path | Del 2.5 Mb | De novo | 66 | PRODH, SLC25A, CDC45, GPİBB, TBX1, COMT, TANGO2, RTN4R, CARF2, PI4KA, SERPIND1, | + | + | hypertelorism, blunted nose, high arched palate, | tetralogy of fallot |
21 | 5 y | chr22:19004771–21,443,283 | 22q11.2 microdup lication syndrome (608363) | Path | Dup 2.4 Mb | Father | 63 | SLC25A, CDC45, GPİBB, TBX1, COMT, TANGO2, RTN4R, CARF2, PI4KA, SERPIND1, | + | + | frontal bossing, synophrys, pytosis, | strabismus, |
22 | 11,5 y | chr22:19077926–21,804,886 | 22q11.2 microdup lication syndrome (608363) | Path | Dup 2.7 Mb | De novo | 65 | SLC25A, CDC45, GPİBB, TBX1, COMT, TANGO2, RTN4R, CARF2, PI4KA, SERPIND1, | – | – | no dysmorphic features | loss of cognitive functioning |
23 | 11 y | chr22:18917030–21,421,425 | 22q11.2 microdup lication syndrome (608363) | Path | Hom dup 2.5 Mb | Mother and father | 66 | PRODH, SLC25A, CDC45, GPİBB, TBX1, COMT, TANGO2, RTN4R, CARF2, PI4KA, SERPIND1, | + | + | Round face, broad nasal bridge, hypertelorism, downslanting palpebral fissures, long philtrum, overfolded helix | patent ductus arteriosus, hypoplasia of clivus |