All individuals with variants in gene PPM1D

18 entries on 1 page. Showing entries 1 - 18.
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00375619 180603 - - F no Germany - - - - - ID adopted child; (+) Abnormality of body height,(+) Aggressive behavior,(+) Short attention span,(+) Hyperactivity,(+) Global developmental delay,(+) Specific learning disability,(+) Growth delay,(+) Dyscalculia,(+) Short stature,(+) Abnormal aggressive, impulsive or violent behavior,(+) Attention deficit hyperactivity disorder,(+) Mild global developmental delay,(+) Neurodevelopmental delay 1 1 Andreas Laner
00375621 Pat1 PubMed: Jansen 2017 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ID see paper; ..., birth weight 2,78kg; height SD−2.7; weight SD+2.3; OFC SD+0.7; mild/moderate intellectual disability; hypotonia; broad-based gait; attention deficit hyperactivity disorder, oppositional defiant disorder, anxiety disorder; broad forehead; low-set, posteriorly rotated ears; upturned nose; no thin upper lip; broad mouth; neonatal feeding difficulty; gastro esophageal reflux and/or vomiting; no constipation; hyperlordosis; periodic illnessc; bicuspid aortic valve; myopia, nystagmus, amblyopia; hypoplastic toenails; no recurrent infections 1 1 Johan den Dunnen
00375622 Pat2 PubMed: Jansen 2017 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ID see paper; ..., birth weight 4kg; height SD−1.5; weight SD+0.5; OFC SD−0.5; mild/moderate intellectual disability; hypotonia; sensory integration problems; broad forehead; low-set, posteriorly rotated ears; no upturned nose; thin upper lip; broad mouth; neonatal feeding difficulty; gastro esophageal reflux and/or vomiting; constipation; small hands; no hyperlordosis; periodic illnessc; high pain threshold; retractile testes, small genital; hyper-metropia, cilinder, strabismus; hypoplastic toenails; no recurrent infections 1 1 Johan den Dunnen
00375623 Pat3 PubMed: Jansen 2017 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ID see paper; ..., birth weight 2,655kg; height SD−2.8; weight SD−1.9; OFC SD−1.5; mild intellectual disability; hypotonia; broad-based gait; sensitivity to sounds; short attention, panic attacks; no broad forehead; low-set, posteriorly rotated ears; upturned nose; thin upper lip; broad mouth; neonatal feeding difficulty; gastro esophageal reflux and/or vomiting; no constipation; small hands; small feet; no hyperlordosis; no periodic illnessc; high pain threshold; small ventricle septum defect and small open ductus arteriosus; hyper-metropia; hypoplastic toenails 1 1 Johan den Dunnen
00375624 Pat4 PubMed: Jansen 2017 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ID see paper; ..., birth weight 3,742kg; height SD0; weight SD0; OFC SD−0.5; intellectual disability; hypotonia; broad-based gait; sensitivity to sounds; sensory integration problems, hyperarousal, short attention; no broad forehead; low-set, posteriorly rotated ears (right); no upturned nose; thin upper lip; no broad mouth; feeding difficulty; gastro esophageal reflux and/or vomiting; constipation; no small hands; no small feet; no hyperlordosis; no periodic illnessc; high pain threshold; no congenital abnormalities; myopia, strabismus, astigmatism, CVI; no hypoplastic nails; no recurrent infections 1 1 Johan den Dunnen
00375625 Pat5 PubMed: Jansen 2017 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ID see paper; ..., birth weight 3,527kg; OFC SD−0.5; intellectual disability; hypotonia; broad-based gait; normal behavior; feeding difficulty; constipation; hyperlordosis; periodic illnessc; bilateral cryptorchidism; no vision problems; hypoplastic toenails 1 1 Johan den Dunnen
00375626 Pat6 PubMed: Jansen 2017 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ID see paper; ..., birth weight 3,18kg; height SD−3; weight SD2; OFC SD−1; no intellectual disability, learning difficulties; no hypotonia; no broad-based gait; anxiety disorder, attention difficulties, biting; no broad forehead; no upturned nose; thin upper lip; broad mouth; no feeding difficulty; gastro esophageal reflux and/or vomiting; no constipation; small hands; periodic illnessc; high pain threshold; no congenital abnormalities; no vision problems; no hypoplastic nails 1 1 Johan den Dunnen
00375627 Pat7 PubMed: Jansen 2017 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ID see paper; ..., birth weight 2,2kg; height SD<−3; weight SD+0.5; OFC SD−1.8; mild/moderate intellectual disability; no hypotonia; no broad-based gait; sensitivity to sounds; sensory integration problems, anxiety, short attention; no broad forehead; no low-set, posteriorly rotated ears; no upturned nose; no thin upper lip; no broad mouth; feeding difficulty; gastro esophageal reflux and/or vomiting; constipation; small hands; small feet; hyperlordosis; periodic illnessc; high pain threshold; no congenital abnormalities; hyper-metropia, strabismus, astigmatism, nystagmus; no hypoplastic nails; recurrent infections 1 1 Johan den Dunnen
00375628 Pat8 PubMed: Jansen 2017 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ID see paper; ..., birth weight 2,211kg; height SD<−2.5; weight SD<−2.5; OFC SD<−2.5; mild/moderate intellectual disability; hypotonia; no broad-based gait; sensitivity to sounds; anxiety; broad forehead; no low-set, posteriorly rotated ears; no upturned nose; thin upper lip; no broad mouth; feeding difficulty; infancy gastroesophageal reflux and/or vomiting; infancy constipation; small hands; small feet; hyperlordosis; periodic illnessc; high pain threshold; no congenital abnormalities; myopia, strabismus; hypoplastic fifth toenails 1 1 Johan den Dunnen
00375629 Pat9 PubMed: Jansen 2017 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ID see paper; ..., birth weight 3,061kg; height SD−2.3; weight SD−2.2; OFC SD−3.1; severe intellectual disability ; hypotonia; broad-based gait; sensitivity to sounds; autism spectrum disorder; broad forehead; low-set, posteriorly rotated ears; no upturned nose; thin upper lip; broad mouth; no feeding difficulty; gastro esophageal reflux and/or vomiting; constipation; small hands; small feet; hyperlordosis; periodic illnessc; high pain threshold; no congenital abnormalities; no vision problems; no hypoplastic nails; recurrent infections 1 1 Johan den Dunnen
00375630 Pat10 PubMed: Jansen 2017 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ID see paper; ..., birth weight 2,73kg; height SD−2.5; weight SD−2; OFC SD−2.5; moderate intellectual disability; hypotonia; sensitivity to sounds; normal behavior; broad forehead; low-set, posteriorly rotated ears; upturned nose; thin upper lip; no broad mouth; no feeding difficulty; gastro esophageal reflux and/or vomiting; no constipation; small hands; periodic illnessc; high pain threshold; laryngo-malacia; hyper-metropia, strabismus; no hypoplastic nails 1 1 Johan den Dunnen
00375631 Pat11 PubMed: Jansen 2017 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ID see paper; ..., birth weight 3,2kg; height SD−2.7; weight SD−1.8; OFC SD−2.5; moderate intellectual disability; hypotonia; normal behavior; broad forehead; low-set, posteriorly rotated ears; upturned nose; thin upper lip; broad mouth; feeding difficulty; no gastro esophageal reflux and/or vomiting; small hands; small feet; hyperlordosis; no periodic illnessc; high pain threshold; no congenital abnormalities; hyper-metropia, strabismus; hypoplastic nails; recurrent infections 1 1 Johan den Dunnen
00375632 Pat12 PubMed: Jansen 2017 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ID see paper; ..., birth weight 3,429kg; height SD+0.41; weight SD>+2.5; OFC SD+3.49; severe intellectual disability ; no hypotonia; no broad-based gait; autism spectrum disorder, attention problems, oppositional, aggression; no feeding difficulty; no gastro esophageal reflux and/or vomiting; no constipation; no periodic illnessc; no congenital abnormalities; no vision problems; recurrent infections 1 1 Johan den Dunnen
00375633 Pat13 PubMed: Jansen 2017 - F - - - - - - - ID, PSS see paper; ..., height SD−2.6; weight SD−4.9; severe intellectual disability ; hypotonia; autism spectrum disorder; broad forehead; upturned nose; thin upper lip; no broad mouth; feeding difficulty; gastro esophageal reflux and/or vomiting; constipation; small hands; small feet; bilateral parietal foramina, exostoses, diaphragmatic hernia, volvulus intestine (confirmed diagnosis Potocki-Shaffer syndrome); strabismus, nystagmus, iridocyclitis, retinal detachment; recurrent infections 1 1 Johan den Dunnen
00375634 Pat14 PubMed: Jansen 2017 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ID see paper; ..., birth weight 3,14; height SD−2; weight SD0; OFC SD−1.5; mild intellectual disability; no hypotonia; no broad-based gait; sensitivity to sounds; autism spectrum disorder; broad forehead; posteriorly rotated ears; no upturned nose; thin upper lip; no broad mouth; neonatal feeding difficulty; no gastro esophageal reflux and/or vomiting; constipation; small hands; small feet; hyperlordosis; no periodic illnessc; no high pain threshold; no congenital abnormalities; no vision problems; no hypoplastic nails; no recurrent infections 1 1 Johan den Dunnen
00443717 UCDMX015 - - F - Mexico Mexican - - - - cancer, colon - 1 1 Leticia Angélica Barraza Arellano
00459429 - - - F - - (not applicable) white - - - - NDD HP:0000684, HP:0000750, HP:000094, HP:0001263, HP:0002003, HP:0002360, HP:0004691, HP:0200096 1 1 Marketa Wayhelova
00466230 340511 - - M no Germany - - - - - JDVS Delayed speech and language development, Intellectual disability, Autistic behavior 1 1 Andreas Laner
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