All individuals with variants in gene MAGEL2

20 entries on 1 page. Showing entries 1 - 20.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
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VIP     
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Owner     
00001234 - PubMed: Schaaf 2013 - M no United States white - - - - ID autism spectrum disorder 1 1 Christian Schaaf
00001608 - PubMed: Schaaf 2013 - M - United States Hispanic - - - - autism, ID Prader Willi Syndrome, neonatal hypotonia, feeding difficulties, excessive weight gain during childhood, hyperphagia, hypogonadism, sleep apnea 1 1 Christian Schaaf
00001609 - PubMed: Schaaf 2013 - M - United States white - - - - ID Feeding problems in infancy, excessive weight gain during early childhood, hypogonadism, abnormal behaviors, short stature, contractures of the proximal and distal interphalangeal joints. 1 1 Christian Schaaf
00001610 - PubMed: Schaaf 2013 - M - United States Hispanic - - - - ID Neonatal hypotonia, feeding problems, lack of satiety, intellectual disability, autism spectrum disorder, small hands, narrow hands, abnormal behaviors, skin picking, sleep apnea, contractures of the proximal and distal interphalangeal joints. 1 1 Christian Schaaf
00080892 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - SHFYNG Schaaf-Yang syndrome (OMIM:615547) 1 1 Daniel Trujillano
00146557 - - - ? - (Germany) - - - - - ? Intellectual disability (HP:0001249); Increased body weight (HP:0004324) 1 1 IMGAG
00165095 - - - F no Japan - 05y - - - SHFYNG - 1 1 Yutak Negishi
00165096 - - - M no Japan - - - 3y - SHFYNG - 1 1 Yutak Negishi
00165097 - - - M no Japan - 01y - - - SHFYNG - 1 1 Yutak Negishi
00165098 - - - M no Japan - 06y - - - SHFYNG - 1 1 Yutak Negishi
00165099 - - - M no Japan - 23y - - - SHFYNG - 1 1 Yutak Negishi
00165100 - - - M no Japan - 12y - - - SHFYNG - 1 1 Yutak Negishi
00288209 Pat19 PubMed: Lee 2019 - - - United States - - - - - ? overlapping digits, ventriculomegaly, strabismus, small hand, short foot, scoliosis, precocious puberty, polyhydramnios, panhypopituitarism, obstructive sleep apnea, nystagmus, noncommunicating hydrocephalus, muscular hypotonia of the trunk, microphthalmos, laryngomalacia, joint contracture of the hand, inferior oblique palsy, inability to walk, hypoxemia, hypopituitarism, hypocortisolemia, hypertonia, hydronephrosis, high palate, hand clenching, growth hormone deficiency, global developmental delay, frontal bossing, distal arthrogryposis, dilation of lateral ventricles, delayed visual maturation, craniosynostosis, complete duplication of thumb phalanx, chronic lung disease, central hypothyroidism, central diabetes insipidus, camptodactyly, adrenal insufficiency, absent speech, abnormality of the cerebral white matter, abnormal pupillary light reflex 1 1 Johan den Dunnen
00291162 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00307207 D16-1250 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - DA antenatal onset; arthrogryposis multiplex congenita; flexion contracture (all major joints); hypertonia; elevated serum creatine kinase 1 1 Gianina Ravenscroft
00307235 D18-1694 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - DA distal arthrogryposis; obstructive sleep apnea; bulbar signs; feeding difficulties 1 1 Gianina Ravenscroft
00307237 D18-2007 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - DA elbow flexion contracture; flexion contracture of fingers and thumbs; hand clenching; torticollis 1 1 Gianina Ravenscroft
00314908 Trio102 PubMed: Zhu 2015 - F - United States - - - - - ? Hypotonia, developmental delay (no vocalizations at 17 months, not walking), growth retardation, microcephaly, minor dysmorphisms (frontal bossing, slightly coarse appearance to the face, prominent lips, protruding simple ears), abnormal neurological screen at birth, bilateral cortical thumbing, bradycardia at birth, hypothyroidism diagnosed at 10 months. 1 1 Johan den Dunnen
00419466 8023 PubMed: Marinakis 2021 - M - Greece - - - - - ? - 1 1 Jan Traeger-Synodinos
00428223 Fam4PatII1 PubMed: Falb 2023, Journal: Falb 2023 family, 1 affected F - Germany - - - - - ? reduced fetal movements; contractures elbows, wrists, fingers, talipes equinovarus (bilateral); large ears, premature craniosynostosis, camptodactyly, clinodactyly; intellectual disability, motor and speech developmental delay, muscular hypotonia, hypotrophy of shoulder muscles; hydronephrosis (bilateral), anal stenosis, laryngomalacia, scoliosis, strabismus 1 1 Johan den Dunnen
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