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["Supplementary table 1. Genomic findings in patients with Cataract and heart diseases in DECIPHER database"]
["Changes in Nucleotides"]
["Patieient ","DECIPHER ID","Gender","Gene","Genomiccoordinates (GRCh37/hg19) ","SNPs/Indels","Inheritance ","Pathogenicity","OMIM/Pubmed Reported Phenotype ","Clinical Characters"]
[1,261136,"male","MYH6","14:23870143","G>T","Unknown","Uncertain","Sick sinus syndrome 3/Atrial septal defect 3 /Cardiomyopathy, dilated, 1EE/Cardiomyopathy, hypertrophic,14","Abnormal heart morphology, Constipation, Developmental cataract, Microcephaly, Mixed hearing impairment, Sleep apnea"]
[1,261136,"male","NOTCH1","9:139402723","C>CGTCGCA","Unknown","Uncertain","Adams-Oliver syndrome 5 /Aortic valve disease 1","Abnormal heart morphology, Constipation, Developmental cataract, Microcephaly, Mixed hearing impairment, Sleep apnea"]
[2,262217,"female","BCOR","X:39930311","C>T","De novo","Pathogenic","Microphthalmia syndromic 2/Oculofaciocardiodental syndrome","1-2 toe syndactyly, 4-5 finger syndactyly, Abnormal cardiac septum morphology, Abnormality of the nasal bridge, Agenesis of permanent maxillary lateral incisor, Agenesis of permanent teeth, Anteverted nares, Delayed eruption of permanent teeth, Delayed eruption of primary teeth, Delayed eruption of teeth, Developmental cataract, High forehead, Hypodontia, Microphthalmia"]
[3,264059,"male","DYRK1A","21:38862485","A>T","De novo","Pathogenic","Down's syndrome","Abnormal anterior chamber morphology, Aortic valve stenosis, Autism, Cataract, Constipation, Microcephaly, Micrognathia, Polyhydramnios, Seizure"]
[4,266475,"female","ALDH18A1","10:97392786-97392792","ATTATCT>A","De novo","Pathogenic","Cutis Laxa Autosomal Recessive Type IIIA/Cutis laxa, autosomal dominant 3/Spastic paraplegia 9A autosomal dominant/Spastic paraplegia 9B autosomal recessive","Arterial tortuosity, Freckles in sun-exposed areas, Joint hypermobility, Lamellar cataract, Mild short stature, Postnatal microcephaly, Sparse scalp hair, Specific learning disability"]
[5,267311,"female","TBX18","6:85446573","C>A","Paternally inherited","Uncertain","Congenital anomalies of kidney and urinary tract 2","Abnormality of the periventricular white matter, Anal atresia, Cystic hygroma, Developmental cataract, Double outlet right ventricle, Global developmental delay, Infantile axial hypotonia, Labial hypertrophy, Multicystic kidney dysplasia, Nystagmus, Rectovaginal fistula, Transposition of the great arteries"]
[5,267311,"female","CRYBA1","17:27581345","C>G","Paternally inherited","Pathogenic","Cataract 10, multiple types ","Abnormality of the periventricular white matter, Anal atresia, Cystic hygroma, Developmental cataract, Double outlet right ventricle, Global developmental delay, Infantile axial hypotonia, Labial hypertrophy, Multicystic kidney dysplasia, Nystagmus, Rectovaginal fistula, Transposition of the great arteries"]
[6,267974,"female","BCOR","X:39922233-39922241","TGGTGCGCA>T","De novo","Pathogenic","Microphthalmia syndromic 2/Oculofaciocardiodental syndrome","Abnormal renal morphology, Abnormality of the anus, Asplenia, Atrial septal defect, Cleft palate, Craniosynostosis, Developmental cataract, Dysplastic pulmonary valve, Ectopic kidney, Intestinal malrotation, Microphthalmia, Proximal radio-ulnar synostosis"]
[7,268087,"female","ARCN1","11:118452209-118452214","GCTCTT>G","De novo","Unkown","Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay","Abnormal facial shape, Abnormality of the epiphysis of the femoral head, Bilateral ptosis, Clinodactyly of the 5th toe, Conical tooth, Failure to thrive, Hypermetropia, Hypoplasia of dental enamel, Hypoplasia of the lower eyelids, Micrognathia, Nail dysplasia, Patent ductus arteriosus, Pes planus, Posterior subcapsular cataract, Right ventricular hypertrophy, Strabismus"]
[8,269362,"female","KAT6A","8:41801276","G>A","De novo, mosaic","Unkown","Arboleda-Tham syndrome","Abnormal systemic arterial morphology, Absent eyebrow, Cataract, Developmental glaucoma, Global developmental delay, Hematological neoplasm, Left ventricular hypertrophy, Lower limb asymmetry, Micrognathia, Microphthalmia, Myopia, Narrow chest, Postnatal growth retardation, Sparse scalp hair, Supernumerary nipple, Unilateral cleft palate, Upper limb asymmetry, Ventriculomegaly"]
[9,279605,"male","DYNC1H1","14:102469287","G>A","De novo","Uncertain","Charcot-Marie-Tooth disease, axonal, type 20 /Mental retardation, autosomal dominant 13 /Spinal muscular atrophy, lower extremity-predominant 1, AD","Abnormal facial shape, Abnormal muscle tone, Abnormality of the outer ear, Broad nasal tip, Cataract, Deeply set eye, Dysplastic pulmonary valve, Gastroesophageal reflux, Hypertonia, Inspiratory stridor, Laryngomalacia, Moderate global developmental delay, Pes cavus, Plagiocephaly, Pulmonic stenosis, Recurrent lower respiratory tract infections, Seizure, Thin vermilion border"]
[10,280970,"female","BCOR","X:39933009-39933013","CTTGT>C","De novo","Unkown","Microphthalmia syndromic 2/Oculofaciocardiodental syndrome","Cataract, Delayed gross motor development, Microphthalmia, Nail dystrophy, Pulmonic stenosis"]
[11,303226,"female","BCOR","X:39914760","C>CAG","Maternally inherited","Likely pathogenic","Microphthalmia syndromic 2/Oculofaciocardiodental syndrome","Atrial septal defect, Developmental cataract, Neonatal respiratory distress, Thyroglossal cyst, Uplifted earlobe, Ventricular septal defect"]
[11,303226,"female","ACSL4","X:108921542","T>A","De novo","Uncertain","Mental retardation, X-linked 63","Atrial septal defect, Developmental cataract, Neonatal respiratory distress, Thyroglossal cyst, Uplifted earlobe, Ventricular septal defect"]
[12,304125,"female","JAG1","20:10624472","G>T","De novo","Pathogenic","Deafness, congenital heart defects, and posterior embryotoxon /Alagille syndrome 1/Tetralogy of Fallot","Aortic regurgitation, Atrial septal defect, Chorioretinal atrophy, Dental malocclusion, Glaucoma, Hyperthyroidism, Myopia, Retinal dystrophy, Subcapsular cataract"]
[13,406692,"female","SMG9","19:44249014","A>AC","Biparental","Likely pathogenic","Heart and brain malformation syndrome","Cataract, Microcephaly, Profound global developmental delay, Short stature, Ventricular septal defect"]
[]
["Changes in Copy Numbers"]
["Patient","DECIPHER ID","Gender","CNVs","Genomiccoordinates (GRCh37/hg19) ","Size","Inheritance ","Pathogenicity","DGV/DECIPHER Reported Syndrome","Clinical Characters"]
[14,318,"male","1q42.13del","1:228888703-229677483","788.78 kb","Unknown","Unknow","NA","Abnormality of the pinna, Absent nipple, Atrioventricular canal defect, Autism, Blepharophimosis, Cataract, Clinodactyly of the 5th finger, Cryptorchidism, Deeply set eye, Delayed speech and language development, Epicanthus, Hearing impairment, Intellectual disability, Long philtrum, Low-set ears, Microtia, Patent ductus arteriosus, Pes planus, Renal hypoplasia, Sacral dimple, Short neck, Short phalanx of finger, Single transverse palmar crease, Sparse and thin eyebrow, Sparse hair, Stenosis of the external auditory canal, Thickened ears, Thin upper lip vermilion, Wide nasal bridge"]
[14,318,"male","1q42.2del","1:232672145-232855415","183.27 kb","Unknown","Unknow","NA","Abnormality of the pinna, Absent nipple, Atrioventricular canal defect, Autism, Blepharophimosis, Cataract, Clinodactyly of the 5th finger, Cryptorchidism, Deeply set eye, Delayed speech and language development, Epicanthus, Hearing impairment, Intellectual disability, Long philtrum, Low-set ears, Microtia, Patent ductus arteriosus, Pes planus, Renal hypoplasia, Sacral dimple, Short neck, Short phalanx of finger, Single transverse palmar crease, Sparse and thin eyebrow, Sparse hair, Stenosis of the external auditory canal, Thickened ears, Thin upper lip vermilion, Wide nasal bridge"]
[15,2376,"male","Xp22.2-p22.13del","X:15805640-18683175","2.88 Mb","De novo","Unknow","NA","Cataract, Intellectual disability, Muscular hypotonia, Seizure, Tetralogy of Fallot"]
[16,257014,"female","11q14.1del","11:84539556-84743871","204.32 kb","Unknown","Unknow","NA","2-3 toe syndactyly, Atrial septal defect, Cataract, Clinodactyly of the 5th finger, Hypothyroidism, Intellectual disability, Long philtrum, Microcephaly, Microphthalmia, Pulmonic stenosis, Thin upper lip vermilion, Ventricular septal defect"]
[17,259477,"female","1p36.32-p36.21del","1:3788872-14507281","10.72 Mb","De novo","Pathogenic","1p36 microdeletion syndrome","Cataract, Generalized hirsutism, Growth delay, Intellectual disability, Microcephaly, Ventricular septal defect"]
[18,282259,"female","17p11.2del","17:16000001-22200000","6.20 Mb","De novo","Pathogenic","Smith-Magenis Syndrome","Abnormal cry, Attention deficit hyperactivity disorder, Basilar invagination, Broad face, Bulbous nose, Cardiomegaly, Coarse facial features, Corneal scarring, Cortical cataract, Decreased glomerular filtration rate, Downturned corners of mouth, Everted upper lip vermilion, Global developmental delay, Intellectual disability, Long eyebrows, Microcornea, Midface retrusion, Renal hypoplasia, Secundum atrial septal defect, Seizure, Short foot, Short nose, Square face, Synophrys, Vesicoureteral reflux, Wide nasal bridge"]
[19,285774,"male","15q21.3dup","15:55547690-55945030","397.34 kb","Paternally inherited","Uncertain","NA","Agenesis of corpus callosum, Cardiomyopathy, Cataract, Cerebellar vermis hypoplasia, Concentric hypertrophic cardiomyopathy, Encephalopathy, Gastroschisis, Global developmental delay, Hyperreflexia, Microcephaly, Optic nerve hypoplasia"]
[20,289266,"Unknown","3p12.2del","3:83008400-83100150","91.75 kb","Paternally inherited","Likely benign","NA","Cataract, Hydrops fetalis, Hypertrophic cardiomyopathy"]
[21,289684,"Unknown","4q28.2dup","4:129786343-129914928","128.59 kb","Unknown","Likely benign","NA","Cardiomyopathy, Diabetes mellitus, Insulin resistance, Intellectual disability, Presenile cataracts"]
[22,292631,"male","15q25.2dup","15:82349104-82564256","215.15 kb","Unknown","Likely pathogenic","NA","Atrial septal defect, Cataract, Growth delay"]
[23,304917,"female","22q11.1-q13.1dup","22:17029055-37959706","20.93 Mb","Unknown","Pathogenic","22q11 duplication syndrome","Axial malrotation of the kidney, High palate, Hypoplastic toenails, Iris coloboma, Patent ductus arteriosus after birth at term, Polyhydramnios, Posterior capsular cataract, Prominent nasal bridge, Short nose, Small anterior fontanelle, Smooth philtrum"]
[24,323303,"male","18q23dup","18:77256619-77713420","456.80 kb","Unknown","Uncertain","NA","Atrial septal defect, Developmental cataract, Unilateral absence of pectoralis major muscle"]
[24,323303,"male","1q21.1-q21.2del","1:146106723-147830830","1.72 Mb","Unknown","Likely pathogenic","1q21.1 recurrent microdeletion ","Atrial septal defect, Developmental cataract, Unilateral absence of pectoralis major muscle"]
[25,390354,"female","4p16.3-p15.33del","4:10001-11323731","11.31 Mb","Imbalance arising from a balanced parental rearrangement","Likely pathogenic","Wolf-Hirschhorn Syndrome","Abnormality of globe size, Abnormality of the cardiovascular system, Abnormality of the gallbladder, Abnormality of the pinna, Abnormality of upper lip, Blepharophimosis, Capillary hemangioma, Cataract, Congenital microcephaly, Delayed closure of the anterior fontanelle, Delayed skeletal maturation, Downslanted palpebral fissures, EEG abnormality, Frontal bossing, High anterior hairline, High palate, Highly arched eyebrow, Hydrocephalus, Hyperconvex nail, Hypertelorism, Intellectual disability, Iris coloboma, Low-set ears, Lower limb undergrowth, Medial flaring of the eyebrow, Micrognathia, Narrow mouth, Narrow palate, Optic nerve coloboma, Overlapping fingers, Polyhydramnios, Posteriorly rotated ears, Preauricular skin tag, Prominent glabella, Proptosis, Recurrent corneal erosions, Recurrent infections, Short foot, Short nose, Short palm, Short philtrum, Short stature, Single transverse palmar crease, Small for gestational age, Small nail, Strabismus, Thick upper lip vermilion, Trigonocephaly, Ulnar deviation of the hand, Upper limb undergrowth, Wide cranial sutures, Wide nasal bridge"]
[26,391168,"female","2q23.3-q24.3del","2:150874492-164174493","13.30 Mb","De novo","Likely pathogenic","NA","Abnormal dermatoglyphics, Abnormal finger phalanx morphology, Abnormality of cardiovascular system morphology, Anteverted nares, Aplasia/Hypoplasia of the hallux, Arrhythmia, Cataract, Depressed nasal bridge, Downslanted palpebral fissures, EEG abnormality, Exaggerated cupid's bow, Frontal bossing, Generalized hirsutism, High palate, Intellectual disability, Low-set ears, Microcephaly, Micrognathia, Misalignment of teeth, Narrow mouth, Parietal foramina, Proportionate short stature, Proximal placement of thumb, Ptosis, Sandal gap, Scoliosis, Short nose, Short phalanx of finger, Strabismus, Thick eyebrow, Wide nasal base"]
[27,392031,"female","12p13.33del","12:145740-3229739","3.08 Mb","De novo","Likely pathogenic","12p13.33 microdeletion syndrome ","Abnormality of the sternum, Brachycephaly, Bulbous nose, Cataract, Cleft palate, Depressed nasal bridge, Downturned corners of mouth, EEG abnormality, Everted lower lip vermilion, Finger clinodactyly, Frontal bossing, Full cheeks, Hypoplasia of the maxilla, Hypoplastic nipples, Intellectual disability, Limited hip movement, Macrotia, Microcephaly, Muscular hypotonia, Narrow forehead, Narrow pelvis bone, Non-midline cleft lip, Posteriorly rotated ears, Proportionate short stature, Short neck, Short sternum, Strabismus, Telecanthus, Ventricular septal defect, Wide intermamillary distance, Wide nasal bridge"]
[28,392057,"male","15p13-p11.1del","15:1-19000000","19.00 Mb","Imbalance arising from a balanced parental rearrangement","Likely pathogenic","NA","Abnormality of brain morphology, Abnormality of the kidney, Abnormality of the pinna, Abnormality of the ribs, Annular pancreas, Anteverted nares, Aortic regurgitation, Aplasia/Hypoplasia of the thymus, Atrial septal defect, Camptodactyly of finger, Cataract, Congenital microcephaly, Cryptorchidism, Diastasis recti, Downturned corners of mouth, Epicanthus, High palate, Holoprosencephaly, Hypertelorism, Hypoplastic philtrum, Long philtrum, Micrognathia, Omphalocele, Posteriorly rotated ears, Preauricular pit, Prominent palatine ridges, Pulmonary hypoplasia, Short neck, Short stature, Short sternum, Single transverse palmar crease, Small for gestational age, Small nail, Thin ribs, Ventricular septal defect, Webbed neck, Wide intermamillary distance, Wide nasal bridge"]
[29,392266,"female","6q24.3-q27dup","6:148758307-170996944","22.24 Mb","Imbalance arising from a balanced parental rearrangement","Likely pathogenic","NA","Cataract, Delayed skeletal maturation, Dental malocclusion, Depressed nasal bridge, Downturned corners of mouth, Finger clinodactyly, Flexion contracture, High palate, Hypertelorism, Inguinal hernia, Intellectual disability, Low posterior hairline, Low-set ears, Microcephaly, Micrognathia, Misalignment of teeth, Patent ductus arteriosus, Proportionate short stature, Ptosis, Scoliosis, Small for gestational age, Strabismus, Talipes equinovarus, Tapered finger, Ulnar deviation of finger, Webbed neck, Wide intermamillary distance, Wide nasal bridge"]
[29,392266,"female","11q24.3-q25del","11:130594790-134946516","4.35 Mb","Imbalance arising from a balanced parental rearrangement","Likely pathogenic","NA","Cataract, Delayed skeletal maturation, Dental malocclusion, Depressed nasal bridge, Downturned corners of mouth, Finger clinodactyly, Flexion contracture, High palate, Hypertelorism, Inguinal hernia, Intellectual disability, Low posterior hairline, Low-set ears, Microcephaly, Micrognathia, Misalignment of teeth, Patent ductus arteriosus, Proportionate short stature, Ptosis, Scoliosis, Small for gestational age, Strabismus, Talipes equinovarus, Tapered finger, Ulnar deviation of finger, Webbed neck, Wide intermamillary distance, Wide nasal bridge"]
[30,392304,"female","3q27.1-q29del","3:182717299-197962430","15.25 Mb","Imbalance arising from a balanced parental rearrangement","pathogenic","3q29 microdeletion syndrome","Abnormal lung lobation, Abnormal vertebral morphology, Abnormality of mesentery morphology, Abnormality of the calvaria, Alveolar ridge overgrowth, Anteverted nares, Cataract, Choanal atresia, Dolichocephaly, Edema of the dorsum of feet, Finger clinodactyly, Genu valgum, High palate, Hip dislocation, Holoprosencephaly, Hypoplasia of the corpus callosum, Hypoplastic nipples, Hypoplastic philtrum, Intellectual disability, Lacrimal duct aplasia, Long philtrum, Low-set ears, Microcornea, Microphthalmia, Microtia, Missing ribs, Optic atrophy, Overlapping toe, Posteriorly rotated ears, Prominent ear helix, Pulmonic stenosis, Rocker bottom foot, Sacral dimple, Scoliosis, Short palpebral fissure, Short stature, Small for gestational age, Thin upper lip vermilion, Ventricular septal defect"]
[31,393311,"male","7p22.3-p22.1del","7:10239-7126760","7.12 Mb","Imbalance arising from a balanced parental rearrangement","Likely pathogenic","NA","Abnormality of cardiovascular system morphology, Abnormality of the gallbladder, Aplasia/Hypoplasia of the thymus, Atrioventricular canal defect, Cataract, Congenital microcephaly, Cryptorchidism, Dolichocephaly, EEG abnormality, Facial asymmetry, Low-set ears, Micrognathia, Prominent nose, Scrotal hypoplasia, Tetralogy of Fallot"]
[32,394118,"male","11p15.1-p12del","11:16843424-36443424","19.60 Mb","De novo","Likely pathogenic","WAGR 11p13 deletion syndrome","Abnormality of cardiovascular system morphology, Aniridia, Cataract, Cryptorchidism, Nystagmus, Photophobia, Respiratory distress"]
[33,394153,"male","11q23.1-q25del","11:110494790-134946516","24.45 Mb","Imbalance arising from a balanced parental rearrangement","Likely pathogenic","NA","Abnormality of the cardiovascular system, Abnormality of the pinna, Barrel-shaped chest, Cataract, Cryptorchidism, Downslanted palpebral fissures, Hypertelorism, Hypospadias, Low-set ears, Microphthalmia, Narrow palate, Overlapping fingers, Overlapping toe, Patent ductus arteriosus, Posteriorly rotated ears, Pulmonic stenosis, Short neck, Short palpebral fissure, Single transverse palmar crease, Small for gestational age, Ventricular septal defect, Webbed neck, Wide intermamillary distance"]
[34,395658,"male","10p15.3-p13del","10:60001-17259994","17.20 Mb","De novo","Likely pathogenic","NA","Abnormality of cardiovascular system morphology, Anteverted nares, Cataract, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Finger clinodactyly, Hearing impairment, High palate, Intellectual disability, Low-set ears, Micrognathia, Recurrent infections, Renal hypoplasia, Short neck, Short palpebral fissure, Wide intermamillary distance"]
[35,395924,"female","18p11.32-p11.1del","18:10001-15410898","15.40 Mb","Imbalance arising from a balanced parental rearrangement","Likely pathogenic","NA","Abnormal vertebral morphology, Abnormality of cardiovascular system morphology, Abnormality of the sternum, Abnormality of the tongue, Anteverted nares, Broad neck, Cataract, Delayed eruption of teeth, High palate, Hypertelorism, Intellectual disability, Joint laxity, Large for gestational age, Low-set ears, Macrotia, Narrow palate, Preauricular pit, Short neck, Small nail, Upslanted palpebral fissure, Wide nasal bridge"]
[36,395967,"female","18p11.32-p11.1del","18:10001-15410898","15.40 Mb","Imbalance arising from a balanced parental rearrangement","Likely pathogenic","NA","Abnormal vertebral morphology, Abnormality of cardiovascular system morphology, Anteverted nares, Broad neck, Cataract, Dental malocclusion, High palate, Hypertelorism, Intellectual disability, Joint laxity, Large for gestational age, Low-set ears, Macrotia, Narrow palate, Premature birth, Sacrococcygeal pilonidal abnormality, Short neck, Small nail, Upslanted palpebral fissure, Wide nasal bridge"]
[37,396099,"male","9p24.3-p23del","9:10001-9010000","9.00 Mb","Imbalance arising from a balanced parental rearrangement","Likely pathogenic","NA","2-3 toe syndactyly, Abnormality of cardiovascular system morphology, Abnormality of prenatal development or birth, Annular pancreas, Atrial septal defect, Bifid scrotum, Cataract, Chordee, Craniosynostosis, Delayed closure of the anterior fontanelle, Depressed nasal tip, Ectopic anus, Finger clinodactyly, Hypoplastic philtrum, Hypospadias, Long philtrum, Low anterior hairline, Low-set ears, Micrognathia, Micropenis, Oligohydramnios, Overlapping toe, Patent ductus arteriosus, Premature birth, Pulmonic stenosis, Rocker bottom foot, Sclerocornea, Short neck, Short stature, Sloping forehead, Tricuspid stenosis, Triphalangeal thumb, Wide mouth, Wide nasal bridge"]
[38,396177,"male","20p12.1-p11.1dup","20:17852000-25852000","8.00 Mb","Unknown","Likely pathogenic","NA","Abnormal vertebral morphology, Abnormality of the nasal tip, Aplasia/Hypoplasia of the ulna, Cataract, Chorioretinitis, Frontal bossing, Iris atrophy, Microcornea, Peripheral arterial stenosis, Pointed chin, Prominent nose, Pulmonic stenosis, Rieger anomaly"]
[39,396383,"female","13q31.3-q34del","13:93901999-113994979","20.09 Mb","De novo","Likely pathogenic","NA","Abnormal external genitalia, Abnormal nipple morphology, Abnormality of cardiovascular system morphology, Abnormality of prenatal development or birth, Abnormality of the alveolar ridges, Abnormality of the liver, Abnormality of the palmar creases, Abnormality of the palpebral fissures, Abnormality of the pinna, Abnormality of the small intestine, Abnormality of the upper respiratory tract, Abnormality of the uterus, Adrenal hypoplasia, Anencephaly, Antepartum hemorrhage, Anteverted nares, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the tongue, Asymmetry of the thorax, Bifid uvula, Broad nail, Cataract, Deep plantar creases, Delayed skeletal maturation, Depressed nasal bridge, Flexion contracture, Hallux valgus, Hypothyroidism, Low-set ears, Micrognathia, Microphthalmia, Posteriorly rotated ears, Proptosis, Pulmonary hypoplasia, Radioulnar synostosis, Renal dysplasia, Small for gestational age, Small nail, Ventricular septal defect, Wide nasal bridge"]
[40,399092,"female","17p13.3-p11.1del","17:1-23946703","23.95 Mb","De novo","Likely pathogenic","Smith-Magenis Syndrome，Miller-Dieker syndrome (MDS)，Hereditary Liability to Pressure Palsies (HNPP)","Abnormality of cardiovascular system morphology, Cataract, Emotional lability, Intellectual disability, Myopia, Retinal detachment, Strabismus"]
[41,402546,"Unknown","6q25.3-q27dup","6:158678581-170914297","12.24 Mb","De novo","Pathogenic","NA","Cataract, Megacystis, Ventricular septal defect"]
[41,402546,"Unknown","8p23.3del","8:158048-2193914","2.04 Mb","De novo","Likely pathogenic","NA","Cataract, Megacystis, Ventricular septal defect"]
[41,402546,"Unknown","8p23.2-p22dup","8:2347604-14015208","11.67 Mb","De novo","Likely pathogenic","8p23.1 duplication syndrome","Cataract, Megacystis, Ventricular septal defect"]
[42,402710,"female","10q25.3-q26.3del","10:118410010-135148334","16.74 Mb","De novo","Likely pathogenic","NA","Abnormality of the nasal septum, Aortic valve stenosis, Atrial septal defect, Brachycephaly, Cataract, Deeply set eye, Ectopic anus, Exaggerated cupid's bow, Frontal bossing, Hammertoe, Hiatus hernia, High palate, Hypoplastic female external genitalia, Infra-orbital crease, Intellectual disability, Iris coloboma, Microcephaly, Micrognathia, Nail dysplasia, Narrow forehead, Narrow mouth, Patent ductus arteriosus, Premature closure of fontanelles, Prominent ear helix, Prominent nasal bridge, Pulmonic stenosis, Recurrent infections, Sensorineural hearing impairment, Short 5th finger, Short phalanx of finger, Short stature, Short toe, Short umbilical cord, Small face, Small for gestational age, Small hand, Small nail, Small placenta, Sparse lateral eyebrow, Talipes equinovarus, Upslanted palpebral fissure, Ventricular septal defect, Wide nasal bridge"]
[43,402721,"male","4p16.3del","4:10002-4381928","4.37 Mb","De novo","Likely pathogenic","Wolf-Hirschhorn Syndrome","Asymmetry of the thorax, Atrial septal defect, Cataract, Convex nasal ridge, Cryptorchidism, Downslanted palpebral fissures, EEG abnormality, Facial asymmetry, Facial hemangioma, Hemiplegia, High anterior hairline, High palate, Hypertelorism, Hypertonia, Hypospadias, Intellectual disability, Iris coloboma, Microcephaly, Microdontia, Micrognathia, Misalignment of teeth, Narrow foot, Nystagmus, Posteriorly rotated ears, Preauricular pit, Proportionate short stature, Proptosis, Protruding ear, Pulmonic stenosis, Short philtrum, Short umbilical cord, Slender finger, Small for gestational age, Thick upper lip vermilion"]
[44,411636,"female","4p16.3-p15.32dup","4:71552-15550409","15.48 Mb","Unknown","Pathogenic","NA","Cardiomyopathy, Global developmental delay, Posterior subcapsular cataract"]
[]
["NA: not available"]
["del: deletion"]
["dup: duplication"]