All individuals with variants in gene ZMYM2

35 entries on 1 page. Showing entries 1 - 35.
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00311131 GM10-21 PubMed: Connaughton 2020 - F - Netherlands - - - - - CAKUT renal ultrasound normal; downslanting palpebral fissures; hypotonia, intellectual disability, stereotypic movements 1 1 Johan den Dunnen
00311132 GM1-21 PubMed: Connaughton 2020 - M - United States - - - - - CAKUT upper urinary tract renal agenesis, lower urinary tract hypospadias, cryptorchidism, chordee, Müllerian duct remnants; bicuspid aortic valve; small hands & feet; skin: facial dysmorphsims, convex dysplastic finger nails, hypoplastic toenails; feeding problems, oral phase dysphagia, intra-uterine growth retardation, growth delay; microcephaly, developmental delay, hypotonia, tethered cord 1 1 Johan den Dunnen
00311133 GM3-21 PubMed: Connaughton 2020 - M - United States - - - - - CAKUT upper urinary tract renal ultrasound normal, lower urinary tract enuresis, incontinence; patent ductus arteriosus; facial dysmorphsims; dental caries; developmental delay, autistic spectrum 1 1 Johan den Dunnen
00311134 GM9-21 PubMed: Connaughton 2020 - F - - white - - - - CAKUT upper urinary tract hypoplastic pelvic kidney (R) detected by “reverse phenotyping”; facial dysmorphisms (triangular face, broad neck, broad nasal bridge), scoliosis; single palmar crease on left, tapered fingers, tapered lower extremities; developmental delay, auditory attention, startle reflex, motor stereotypies 1 1 Johan den Dunnen
00311135 SSC3-21 PubMed: Connaughton 2020 - F - Italy - - - - - CAKUT upper urinary tract ureteropelvic junction obstruction (L); mild intellectual disability 1 1 Johan den Dunnen
00311136 A4730-21 PubMed: Connaughton 2020 - M - Macedonia - - - - - CAKUT upper urinary tract prenatal hydronephrosis, lower urinary tract bilateral vesicoureteral reflux grade 3, urethral stricture, hydrocele testis; facial dysmorphism (wide interpupillary distance, mild epicanthal folds, long nose with a bulbous tip, farsightedness, low set posteriorly rotated ears with a simple helix and protuberant ears), hyper-extensibility of the joints; speech delay 1 1 Johan den Dunnen
00311137 A1204-21 PubMed: Connaughton 2020 - F - Macedonia - - - - - CAKUT upper urinary tract renal agenesis (R); hematocolpos, imperforate hymen 1 1 Johan den Dunnen
00311138 GM11-21 PubMed: Connaughton 2020 - M - Morocco - - - - - CAKUT renal ultrasound normal; hypertelorsism, small ears, thick lips, high palate, facial dysmorphsims; obstructive sleep apnoea; developmental delay, mild intellectual disability, seizures, autism, psychosis 1 1 Johan den Dunnen
00311139 GM17-21 PubMed: Connaughton 2020 - M - - white - - - - CAKUT mild hypospadias, distal chordee and dorsal hooding; aplasia cutis; acute lymphoblastic leukemia; developmental delay, autism spectrum disorder (mother has attention deficit hyperactivity disorder and learning disability) 1 1 Johan den Dunnen
00311140 GM19-21 PubMed: Connaughton 2020 - M - Switzerland - - - - - CAKUT renal ultrasound normal; seizure disorder, MRI normal, low IQ (85) 1 1 Johan den Dunnen
00311141 GM6-21 PubMed: Connaughton 2020 2-generation family, 2 affected sisters F - - white - - - - CAKUT renal ultrasound normal; ventricular septal defect, atrial septal defect, patent ductus arteriosus; short stature −2 SD, short 5th digit with abnormal nails, bilateral epicanthi, abnormal palmar crease, upturned nasal tip and severe feeding problems; microcephaly, developmental delay 1 2 Johan den Dunnen
00311142 GM6-22 PubMed: Connaughton 2020 sister F - - white - - - - CAKUT renal ultrasound normal; bilateral epicanthus, abnormal palmar crease; speech delay 1 1 Johan den Dunnen
00311143 GM18-12 PubMed: Connaughton 2020 2-generation family, 3 affected (mother/daughter/son), daughter F - - white - - - - CAKUT atrial septal defect; epicanthal folds; attention deficit hyperactivity disorder, autism, behavioral concerns 1 3 Johan den Dunnen
00311144 GM18-22 PubMed: Connaughton 2020 brother M - - white - - - - CAKUT atrial septal defect 1 1 Johan den Dunnen
00311145 GM18-21 PubMed: Connaughton 2020 mother F - - white - - - - CAKUT renal ultrasound normal; atrial septal defect 1 1 Johan den Dunnen
00311146 GM7-21 PubMed: Connaughton 2020 - F - - white - - - - CAKUT renal ultrasound normal; ECHO heart normal; dysmorphic facial features, short 5th fingers & thumbs, broad big toes, 5th finger clinodactyly, mild short stature (9th percentile); microcephaly, developmental delay, hypotonia, high hyperopia 1 1 Johan den Dunnen
00311147 GM13-21 PubMed: Connaughton 2020 - F - - white - - - - CAKUT renal ultrasound normal; ECHO heart normal; short stature (3rd percentile), dysmorphic facial features (wide eyebrows, wide interpupillary and intercanthal distance, epicanthal folds, narrow downslanting palpebral fissures, nose with a wide tip, downturned corners of the mouth, small and low set ears with hypoplastic lobule), 5th finger clinodactyly; microcephaly, developmental delay, speech delay 1 1 Johan den Dunnen
00311148 GM12-21 PubMed: Connaughton 2020 2-generation family, 2 affected (mother/son), son M - - white - - - - CAKUT renal ultrasound bilateral malrotated kidneys and the right is low lying; dysmorphic facial features (narrow palpebral fissures, epicanthi and telecanthus, small nose and a grooved single philtrum with mild hypoplastic nasal nares), short, thick fingers, increased range of motion joints; developmental delay, speech delay, hypotonia 1 2 Johan den Dunnen
00311149 GM12-12 PubMed: Connaughton 2020 mother F - - white - - - - CAKUT intellectually disability 1 1 Johan den Dunnen
00311150 SSC1-21 PubMed: Connaughton 2020 - M - Poland - - - - - CAKUT upper urinary tract renal agenesis (L); atrial septal defect 1 1 Johan den Dunnen
00311151 A781-21 PubMed: Connaughton 2020 - F - Macedonia - - - - - CAKUT upper urinary tract duplex kidney (bilateral), lower urinary tract ureterocele (L); facila dysmorphism; congenital hip dysplasia 1 1 Johan den Dunnen
00311152 SSC2-21 PubMed: Connaughton 2020 - M - Italy - - - - - CAKUT upper urinary tract ureteropelvic junction obstruction (L); heart WPW syndrome 1 1 Johan den Dunnen
00311153 GM16-21 PubMed: Connaughton 2020 - - - - - - - - - CAKUT excessive femoral anteversion, gait disturbance; alopecia, ectodermal dysplasia; hyponatremia, hypothyroidism, ichthyosis, neutropenia, photophobia, recurrent infections, abnormal thrombosis, thrombocytopenia; global developmental delay, mild intellectual disability, rotary nystagmus, seizures 1 1 Johan den Dunnen
00311154 GM15-21 PubMed: Connaughton 2020 - - - - - - - - - CAKUT scoliosis; macrocephaly, hypotonia, developmental delay 1 1 Johan den Dunnen
00311155 A3928-21 PubMed: Connaughton 2020 - M - India - - - - - CAKUT upper urinary tract renrenomegaly (bilateral) 1 1 Johan den Dunnen
00311156 B1410-21 PubMed: Connaughton 2020 2 afected brothers M - Macedonia - - - - - CAKUT see paper; ... 1 2 Johan den Dunnen
00311157 A663-21 PubMed: Connaughton 2020 - F - Kuwait - - - - - CAKUT upper urinary tract horseshoe kidney, ureteropelvic junction obstruction (L) 1 1 Johan den Dunnen
00311158 A3135-21 PubMed: Connaughton 2020 - M - Kuwait - - - - - CAKUT upper urinary tract horseshoe kidney, renal calculi 1 1 Johan den Dunnen
00311159 B960-21 PubMed: Connaughton 2020 - F - - white - - - - CAKUT upper urinary tract ureteropelvic junction obstruction (bilateral), renal calculi 1 1 Johan den Dunnen
00311160 SSC4-21 PubMed: Connaughton 2020 - M - Netherlands - - - - - CAKUT upper urinary tract renal agenesis (L), lower urinary tract duplex urethra; club hand, hemi-vertebrae, vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities 1 1 Johan den Dunnen
00311161 SSC5-21 PubMed: Connaughton 2020 - F - Macedonia - - - - - CAKUT upper urinary tract ureteropelvic junction obstruction (R) 1 1 Johan den Dunnen
00414761 195735 - - M no Germany - - - - - NDD hypotonia, delayed gross motor development, fair hair, expressive language delay, syndactyly, abnormality of joint mobility, hyperextensible joints 1 1 Andreas Laner
00428257 211248 - - F no Germany - - - - - NECRC Global developmental delay, Delayed speech and language development, Short attention span 1 1 Andreas Laner
00449751 - - - F - - (not applicable) - - - - - ID HP:0001256, HP:0100259, HP:0000739, HP:0010526, HP:0010522, HP:0002354 1 1 Marketa Wayhelova
00464622 214565 - - F no Italy - - - - - NECRC Neurodevelopmental delay, Intellectual disability, Microcephaly, Atypical behavior, Delayed speech and language development, Amblyopia, Sleep abnormality, Anxiety 1 1 Andreas Laner
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