All individuals with variants in gene LPHN1

12 entries on 1 page. Showing entries 1 - 12.
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00303072 Pat114 PubMed: Helbig 2016 - - - United States - - - - - seizures Neonatal Epileptic Encephalopathy; age onset neonatal 1 1 Johan den Dunnen
00415125 Pat1 PubMed: Vitobello 2022, Journal: Vitobello 2022 2 generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD birth weight 3,780g (83rd), length 53cm (95th), OFC 39cm (99th); 18m-sit; 23m-walk; 15m-first words; developmental delay; mild/moderate intellectual disability; autism spectrum disorder; attention-deficit hyperactivity disorder; hypotonia; stereotypies; no epilepsy; sleep disturbance; MRI brain normal; no facial dysmorphism; congenital macrocephaly; no overweight; joint hypermobility; hyperopia, temporary regression, megadolichocolon 1 1 Johan den Dunnen
00415126 Pat2 PubMed: Vitobello 2022, Journal: Vitobello 2022 2 generation family, 1 affected, unaffected non carrier parents M - United States - - - - - NDD delayed sit; delayed walk; delaye speech; developmental delay; facial dysmorphism (probably not linked to ADGRL1 variant); learning disabilities 1 1 Johan den Dunnen
00415127 FamPat3 PubMed: Vitobello 2022, Journal: Vitobello 2022 2-generation family, affected father/3 sons/2 daughters, unaffected heterozygous carrier parents F - - - - - - - NDD birth weight 2,950g (14th), length 50cm (55th), OFC 34.5cm (52nd); 12m-sit; 13m-walk; 24m-first words; developmental delay; mild intellectual disability; autism spectrum disorder; attention-deficit hyperactivity disorder; hypotonia; no stereotypies; no epilepsy; sleep disturbance; no facial dysmorphism; postnatal macrocephaly (93rd centile); overweight (99th centile); joint hypermobility; hyperkinetic disorder, small hands and feet 1 6 Johan den Dunnen
00415128 FamPat4 PubMed: Vitobello 2022, Journal: Vitobello 2022 sister F - - - - - - - NDD birth weight 3,720g (87th), length 52cm (94th), OFC 37cm (98th); 7m-sit; 14m-walk; 12m-first words; developmental delay; mild intellectual disability (IQ 57); no autism spectrum disorder; no attention-deficit hyperactivity disorder; hypotonia; no stereotypies; no epilepsy; sleep disturbance; facial dysmorphism; macrocephaly; overweight; no joint hypermobility; small hands and feet 1 1 Johan den Dunnen
00415129 Pat5 PubMed: Guo 2019, Journal: Guo 2019, PubMed: Vitobello 2022, Journal: Vitobello 2022 2 generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD no developmental delay; no intellectual disability (IQ 96); autism spectrum disorder; suspected attention-deficit hyperactivity disorder; no hypotonia; no stereotypies; no epilepsy; no sleep disturbance; no facial dysmorphism; overweight; no joint hypermobility; poor adaptive skills, learning disabilities 1 1 Johan den Dunnen
00415130 Pat6 PubMed: Vitobello 2022, Journal: Vitobello 2022 2 generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD 11m-walk; 17m-walk; 24m-first words; developmental delay; no intellectual disability; no autism spectrum disorder; no attention-deficit hyperactivity disorder; no hypotonia; no stereotypies; no epilepsy; sleep disturbance; MRI brain nodular heterotopia; facial dysmorphism; no macrocephaly; no overweight; joint hypermobility; migraine,dermatological issues, genital abnormalities, borderline short stature, advance bone age, clinodactyly 1 1 Johan den Dunnen
00415131 Pat7 PubMed: Vitobello 2022, Journal: Vitobello 2022 2 generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD birth weight 3,000g (2–9th), length 54cm (50–75th); 14m-first words; developmental delay; borderline intellectual disability (IQ 74); no autism spectrum disorder; attention-deficit hyperactivity disorder; no hypotonia; epilepsy; sleep disturbance; MRI brain normal; facial dysmorphism; no overweight; delayed puberty 1 1 Johan den Dunnen
00415132 Pat8 PubMed: Vitobello 2022, Journal: Vitobello 2022 2 generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD birth weight 4,470g (>97th), length 57cm (>97th); 7m-sit; 30m-walk; 36m-first words; developmental delay; no intellectual disability (IQ 109); autism spectrum disorder; no attention-deficit hyperactivity disorder; hypotonia; stereotypies; epilepsy; no sleep disturbance; MRI brain normal; facial dysmorphism; no overweight; joint hypermobility; dermatological issues, scoliosis 1 1 Johan den Dunnen
00415133 Pat9 PubMed: Vitobello 2022, Journal: Vitobello 2022 2 generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD birth weight 4,100g (90th), length 51cm (75th), OFC 36.5cm (75th); 9m-sit; 16m-walk; 36m-first words; developmental delay; mild/moderate intellectual disability; no autism spectrum disorder; no attention-deficit hyperactivity disorder; no hypotonia; no stereotypies; no epilepsy; no sleep disturbance; MRI brain normal; facial dysmorphism; macrocephaly (97th centile); no overweight; no joint hypermobility; learning disabilities 1 1 Johan den Dunnen
00415134 FamPat10 PubMed: Vitobello 2022, Journal: Vitobello 2022 2 generation family, affected father/daughter/son; son M - - - - - - - NDD 12m-sit; 17m-walk; 15m-first words; developmental delay; mild intellectual disability; no autism spectrum disorder; no attention-deficit hyperactivity disorder; no hypotonia; no stereotypies; no epilepsy; no sleep disturbance; facial dysmorphism; no macrocephaly; overweight; no joint hypermobility; 43y-two euroendocrine pancreatic tumors 1 3 Johan den Dunnen
00458250 312924 - - F no ? (unknown) - - - - - DD neurodevelopmental delay, EEG abnormal, strabismus, nystagmus, failure to thrive, attention deficit hyperactivity disorder 1 1 Andreas Laner
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