All individuals with variants in gene MAGEL2

84 entries on 1 page. Showing entries 1 - 84.
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00001234 Pat1 PubMed: Schaaf 2013 - M no United States white - - - - ID acc. Patak-31397880 neonatal hypotonia with poor suck, excessive weight gain, developmental delay, intellectual disability, hypogonadism, infantile lethargy, autism spectrum disorder 1 1 Christian Schaaf
00001608 Pat2 PubMed: Schaaf 2013 - M - United States Hispanic - - - - autism, ID neonatal hypotonia with poor suck, feeding problems, excessive weight gain, hyperphagia, developmental delay, intellectual disability, facial dysmorphia, hypogonadism, eye abnormalities, speech articulation defects, sleep apnea, autism spectrum disorde 1 1 Christian Schaaf
00001609 Pat3 PubMed: Schaaf 2013 - M - United States white - - - - ID feeding problems, excessive weight gain, developmental delay, intellectual disability, hypogonadism, infantile lethargy, short stature, eye abnormalities, behavioral issues, speech articulation deficits, skin picking, autism spectrum disorder, contractures of the distal interphalangeal joints 1 1 Christian Schaaf
00001610 Pat4 PubMed: Schaaf 2013 - M - United States Hispanic - - - - ID neonatal hypotonia with poor suck, feeding problems, hyperphagia, developmental delay, intellectual disability, infantile lethargy, short stature, small hands, narrow hands, behavioral issues, speech articulation deficits, skin picking, sleep apnea, autism spectrum disorder, contractures of the 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 Pat1 PubMed: Negishi 2019 - F no Japan - 05y - - - SHFYNG see paper; ... 1 1 Yutak Negishi
00165096 Pat2 PubMed: Negishi 2019 2-generation family, 1 affected, unaffected non-carrier parents M no Japan - - - 3y - SHFYNG see paper; ... 1 1 Yutak Negishi
00165097 Pat3 PubMed: Negishi 2019 2-generation family, 1 affected, unaffected non-carrier parents M no Japan - 01y - - - SHFYNG see paper; ... 1 1 Yutak Negishi
00165098 Pat4 PubMed: Negishi 2019 2-generation family, 1 affected, unaffected non-carrier parents M no Japan - 06y - - - SHFYNG see paper; ... 1 1 Yutak Negishi
00165099 FamPat5 PubMed: Negishi 2019 2-generation family, 2 affected brothers, unaffected heterozygous carrier father and paternal grandmother M no Japan - 23y - - - SHFYNG see paper; ... 1 2 Yutak Negishi
00165100 FamPat6 PubMed: Negishi 2019 brother M no Japan - 12y - - - SHFYNG see paper; ... 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
00444047 PID_15 PubMed: Sarker 2023 no family history M - Bangladesh - - - - - DMD calf hypertrophy; Gower sign positive; elevated CPK; no feeding difficulties; no toe walking; poor walking/running ability; no difficulty climbing stairs; no waddling feet/gait; two seizures; muscle weakness; no skinny legs/arms; delayed developmental milestones; no intellectual disability; no delayed speech; not hyperactive 1 1 Johan den Dunnen
00457745 - - - M - - (not applicable) white - - - - ID HP:0001249 1 1 Marketa Wayhelova
00466179 - - - F - Brazil - - - - - SHFYNG Intellectual disability, Obesity 1 1 Juliana Mazzeu
00467295 CMH382 PubMed: Soden 2014 family, 2 affected sibs - - United States - - - - - ? acc. Patak-31397880 hypotonia, lethargic, hyperinsulemic, ptosis, exotropia, high palate, smooth philtrum, inverted nipples, short upper arms with decreased extension and wrist mobility, low muscle mass, increased fat distribution, autism spectrum disorder 1 2 Johan den Dunnen
00467311 Pat1 PubMed: Patak 2019 2-generation family, unaffected non-carrier parents M - Ireland;Italy;United States Europe;native American - - - - ? see paper; ..., prenatal macrocephaly 1 1 Johan den Dunnen
00467312 Pat2 PubMed: Patak 2019 2-generation family, unaffected non-carrier parents F - United States white - - - - ? see paper; ..., atrial septal defect, tracheomalacia, cleft palate, jaundice; developmental delay 1 1 Johan den Dunnen
00467313 Pat3 PubMed: Patak 2019 2-generation family, unaffected non-carrier parents M - United States white - - - - ? see paper; ..., birth hypotonic, poor suck, scarce spontaneous movements, required ventilator support (10d); developmental delay, growth delay 1 1 Johan den Dunnen
00467314 Pat4 PubMed: Patak 2019 2-generation family, unaffected non-carrier parents F - United States white - - - - ? see paper; ..., pregnancy polyhydramnios, decreased fetal movements; facial dysmorphism, prominent forehead, bitemporal narrowing, deep-set eyes, wide nasal bridge 1 1 Johan den Dunnen
00467315 Pat5 PubMed: Patak 2019 2-generation family, unaffected non-carrier parents F - United States - - - - - ? see paper; ..., birth transferred to neonatal intensive care (3.5m), no cry, no move body/face/eyes 1 1 Johan den Dunnen
00467316 Fam1PatIII1 PubMed: Mejlachowicz 2015 3-generation family, 3 affected fetuses (2F, M) F - France - <0d - - - arthrogryposis see paper; ..., deceased-24wg; severe micrognathia, short palpebral fissures, hypertelorism, short neck, large neck, bilateral club foot, flexion elbows/knees, camptodactyly, lethal arthrogryposis multiplex congenita 1 3 Johan den Dunnen
00467317 Fam1PatIII2 PubMed: Mejlachowicz 2015 fetus F - France - <0d - - - arthrogryposis see paper; ..., deceased-24wg; severe micrognathia, short palpebral fissures, hypertelorism, short neck, large neck, bilateral club foot, flexion elbows/knees, camptodactyly, lethal arthrogryposis multiplex congenita 1 1 Johan den Dunnen
00467318 Fam1PatIII3 PubMed: Mejlachowicz 2015 fetus M - France - <0d - - - arthrogryposis see paper; ..., deceased-27wg; severe micrognathia, short palpebral fissures, hypertelorism, short neck, large neck, bilateral club foot, flexion elbows/knees, camptodactyly, lethal arthrogryposis multiplex congenita 1 1 Johan den Dunnen
00467319 Fam2PatII1 PubMed: Mejlachowicz 2015 2-generation family, 1 affected, unaffected non-carrier parents F - France - 2d - - - arthrogryposis see paper; ..., 2d-deceased; birth microretrognathia, short neck, bilateral camptodactyly third and fourth fingers, bilateral club foot, severe hypotonia, respiratory distress 2 1 Johan den Dunnen
00467320 patient PubMed: Urreizti 2017 2-generation family, 1 affected, unaffected non-carrier parents F - Spain - - - - - ? see paper; ..., birth at term, caesarean section, weight 2.6 kg (34th centile), length 48 cm (49th centile), OFC 34 cm (61st centile), neonatal respiratory depression, hypotonia, contractures fingers/toes, less evident bilateral clubfoot; 1m-cardiopulmonary arrest, bradycardia; trigonocephaly due to premature metopic suture fusion; 2y-treated neurosurgically; feeding difficulties, oropharyngeal dysphagia, eats soft food/liquids (nothing solid) 1 1 Johan den Dunnen
00467321 Pat2 PubMed: Urreizti 2017 - - - Spain - - - - - ? - 1 1 Johan den Dunnen
00467322 Pat12a PubMed: Urreizti 2017 - - - Spain - - - - - ? - 1 1 Johan den Dunnen
00467323 CMH383 PubMed: Soden 2014 sib - - United States - - - - - ? acc. Patak-31397880 apnea, bradycardia, poor feeding, hyperinsulinemic, seizures, hypotonia, interphalangeal contractures, facial dysmorphia, global developmental delay, autism spectrum disorder 1 1 Johan den Dunnen
00467325 Fam1Pat1(III4) PubMed: Fountain 2017 3-generation family, 4 affected (2F, 2M), 4 unaffected heterozygous carriers M - - - - - - - NDD see paper; ..., developmental delay, intellectual disability; autism spectrum disorder; behavioral abnormalities (impulsivity, compulsivity, stubbornness, manipulative); no skin picking/automutilation; no hyperphagia; hypotonia; feeding problems, need for special feeding technique; neonatal hypotonia; contractures; dysmorphic facial features; eye abnormalities (esotropia, myopia, strabismus); hypogonadism; small hands; sleep apnea; small feet; short stature; decreased fetal movement; gastroesophageal reflux; no excessive weight gain; temperature instability; scoliosis/kyphosis; chronic constipation; no seizures 1 4 Johan den Dunnen
00467326 Fam1Pat2(III2) PubMed: Fountain 2017 niece F - - - - - - - NDD see paper; ..., developmental delay, intellectual disability; autism spectrum disorder; no behavioral abnormalities (impulsivity, compulsivity, stubbornness, manipulative); no skin picking/automutilation; no hyperphagia; hypotonia; feeding problems, need for special feeding technique; neonatal hypotonia; contractures; dysmorphic facial features; eye abnormalities (esotropia, myopia, strabismus); no hypogonadism; small hands; normal feet; no short stature; normal fetal movement; no gastroesophageal reflux; no excessive weight gain; no temperature instability; no scoliosis; no chronic constipation; no seizures 1 1 Johan den Dunnen
00467327 Pat3 PubMed: Fountain 2017 - M - - - - - - - NDD see paper; ..., developmental delay, intellectual disability; autism spectrum disorder; behavioral abnormalities (impulsivity, compulsivity, stubbornness, manipulative); skin picking/automutilation; no hyperphagia; hypotonia; no feeding problems; no neonatal hypotonia; contractures; dysmorphic facial features; no eye abnormalities (esotropia, myopia, strabismus); no hypogonadism; small hands; sleep apnea; small feet; short stature; normal fetal movement; no gastroesophageal reflux; no excessive weight gain; no temperature instability; no scoliosis; no chronic constipation; no seizures 1 1 Johan den Dunnen
00467328 Pat4 PubMed: Fountain 2017 - M - - - - - - - NDD see paper; ..., developmental delay, intellectual disability; autism spectrum disorder; no hyperphagia; hypotonia; feeding problems, need for special feeding technique; neonatal hypotonia; contractures; dysmorphic facial features; no eye abnormalities (esotropia, myopia, strabismus); hypogonadism; small hands; sleep apnea; small feet; short stature; decreased fetal movement; gastroesophageal reflux; no excessive weight gain; temperature instability; no scoliosis; chronic constipation; no seizures 1 1 Johan den Dunnen
00467329 Fam2Pat5(III3) PubMed: Fountain 2017 3-generation family, affected sister/brother, 2 unaffected heterozygous carriers F - - - <0d - - - NDD see paper; ..., fetal akinesia, contractures; dysmorphic facial features; no hypogonadism; normal feet; no short stature; decreased fetal movement; no scoliosis 1 2 Johan den Dunnen
00467330 Fam2Pat6(III4) PubMed: Fountain 2017 brother M - - - <0d - - - NDD see paper; ..., contractures; dysmorphic facial features; no hypogonadism; normal feet; no short stature; decreased fetal movement; no scoliosis 1 1 Johan den Dunnen
00467331 Pat7 PubMed: Fountain 2017 - M - - - - - - - NDD see paper; ..., developmental delay, intellectual disability; autism spectrum disorder; behavioral abnormalities (impulsivity, compulsivity, stubbornness, manipulative); skin picking/automutilation; hyperphagia; hypotonia; feeding problems, need for special feeding technique; neonatal hypotonia; contractures; dysmorphic facial features; eye abnormalities (esotropia, myopia, strabismus); hypogonadism; small hands; small feet; no short stature; normal fetal movement; no gastroesophageal reflux; excessive weight gain; no scoliosis; chronic constipation; no seizures 1 1 Johan den Dunnen
00467332 Pat8 PubMed: Fountain 2017 - F - - - - - - - NDD see paper; ..., developmental delay, intellectual disability; no autism spectrum disorder; behavioral abnormalities (impulsivity, compulsivity, stubbornness, manipulative); skin picking/automutilation; hyperphagia; hypotonia; feeding problems, need for special feeding technique; neonatal hypotonia; no contractures; no dysmorphic facial features; eye abnormalities (esotropia, myopia, strabismus); no hypogonadism; small hands; sleep apnea; small feet; short stature; normal fetal movement; no gastroesophageal reflux; excessive weight gain; temperature instability; scoliosis/kyphosis; no chronic constipation; seizures 1 1 Johan den Dunnen
00467333 Pat9 PubMed: Fountain 2017 - M - - - - - - - NDD see paper; ..., no skin picking/automutilation; no hyperphagia; hypotonia; feeding problems, need for special feeding technique; neonatal hypotonia; contractures; dysmorphic facial features; eye abnormalities (esotropia, myopia, strabismus); hypogonadism; no small hands; sleep apnea; normal feet; short stature; normal fetal movement; no gastroesophageal reflux; excessive weight gain; no temperature instability; scoliosis/kyphosis; no chronic constipation; no seizures 1 1 Johan den Dunnen
00467334 Pat10 PubMed: Fountain 2017 - F - - - - - - - NDD see paper; ..., developmental delay, intellectual disability; autism spectrum disorder; behavioral abnormalities (impulsivity, compulsivity, stubbornness, manipulative); no skin picking/automutilation; no hyperphagia; hypotonia; feeding problems, need for special feeding technique; neonatal hypotonia; contractures; dysmorphic facial features; eye abnormalities (esotropia, myopia, strabismus); no hypogonadism; no small hands; sleep apnea; normal feet; short stature; decreased fetal movement; no gastroesophageal reflux; no excessive weight gain; temperature instability; scoliosis/kyphosis; no chronic constipation; no seizures 1 1 Johan den Dunnen
00467335 Pat11 PubMed: Fountain 2017 - M - - - - - - - NDD see paper; ..., developmental delay, intellectual disability; autism spectrum disorder; behavioral abnormalities (impulsivity, compulsivity, stubbornness, manipulative); skin picking/automutilation; hyperphagia; hypotonia; feeding problems, need for special feeding technique; neonatal hypotonia; no contractures; dysmorphic facial features; eye abnormalities (esotropia, myopia, strabismus); hypogonadism; small hands; sleep apnea; small feet; short stature; normal fetal movement; gastroesophageal reflux; excessive weight gain; no temperature instability; no scoliosis; no chronic constipation; no seizures 1 1 Johan den Dunnen
00467336 Pat12 PubMed: Fountain 2017 - M - - - - - - - NDD see paper; ..., developmental delay, intellectual disability; no hyperphagia; hypotonia; feeding problems, need for special feeding technique; neonatal hypotonia; contractures; dysmorphic facial features; no eye abnormalities (esotropia, myopia, strabismus); hypogonadism; small hands; sleep apnea; normal feet; no short stature; normal fetal movement; gastroesophageal reflux; no excessive weight gain; no temperature instability; no chronic constipation 1 1 Johan den Dunnen
00467337 Pat13 PubMed: Fountain 2017 - F - - - - - - - NDD see paper; ..., developmental delay, intellectual disability; autism spectrum disorder; behavioral abnormalities (impulsivity, compulsivity, stubbornness, manipulative); no skin picking/automutilation; hyperphagia; hypotonia; feeding problems, need for special feeding technique; neonatal hypotonia; no contractures; no dysmorphic facial features; eye abnormalities (esotropia, myopia, strabismus); no hypogonadism; small hands; sleep apnea; small feet; no short stature; normal fetal movement; gastroesophageal reflux; excessive weight gain; temperature instability; scoliosis/kyphosis; no seizures 1 1 Johan den Dunnen
00467338 Pat14 PubMed: Fountain 2017 - M - - - - - - - NDD see paper; ..., developmental delay, intellectual disability; no autism spectrum disorder; behavioral abnormalities (impulsivity, compulsivity, stubbornness, manipulative); skin picking/automutilation; no hyperphagia;  ; feeding problems, need for special feeding technique; neonatal hypotonia; contractures; dysmorphic facial features; eye abnormalities (esotropia, myopia, strabismus); hypogonadism; small hands; no sleep apnea; normal feet; short stature; normal fetal movement; gastroesophageal reflux; no excessive weight gain; no temperature instability; scoliosis/kyphosis; chronic constipation; no seizures 1 1 Johan den Dunnen
00467339 Pat15 PubMed: Fountain 2017 - F - - - - - - - NDD see paper; ..., developmental delay, intellectual disability; autism spectrum disorder; behavioral abnormalities (impulsivity, compulsivity, stubbornness, manipulative); skin picking/automutilation; hypotonia; feeding problems, need for special feeding technique; neonatal hypotonia; contractures; dysmorphic facial features; eye abnormalities (esotropia, myopia, strabismus); small hands; no sleep apnea; short stature; gastroesophageal reflux; temperature instability 1 1 Johan den Dunnen
00467340 Fam3Pat18(III20) PubMed: Fountain 2017 4-generation family, 11 affected (5F, 9M); patient one of affected twins M - - - 9m - - - NDD see paper; ..., 9m-deceased; feeding problems, need for special feeding technique; neonatal hypotonia; contractures; dysmorphic facial features; no hypogonadism;  ; gastroesophageal reflux 1 11 Johan den Dunnen
00467341 Fam3Pat17(III14) PubMed: Fountain 2017 nephew M - - - - - - - NDD see paper; ..., developmental delay, intellectual disability; autism spectrum disorder;  ; feeding problems, need for special feeding technique; contractures; dysmorphic facial features; hypogonadism; no sleep apnea; short stature;  ; seizures 1 1 Johan den Dunnen
00467342 Fam3Pat16(III5) PubMed: Fountain 2017 niece, patient one of affected twins F - - - - - - - NDD see paper; ..., developmental delay, intellectual disability; no autism spectrum disorder; no behavioral abnormalities (impulsivity, compulsivity, stubbornness, manipulative); skin picking/automutilation; no hyperphagia; hypotonia; feeding problems, need for special feeding technique; neonatal hypotonia; contractures; dysmorphic facial features; eye abnormalities (esotropia, myopia, strabismus); hypogonadism; small hands; no sleep apnea; small feet; decreased fetal movement; no excessive weight gain; no temperature instability; scoliosis/kyphosis; no seizures 1 1 Johan den Dunnen
00467343 patient PubMed: Palomares‐Bralo 2017 2-generation family, 1 affected, unaffected parents M - Spain - - - - - NDD acc. Patak-31397880 hypothyroidism, hyperprolactinemia, short stature, rounded facies, micrognathia, broad forehead, strabismus, tapering fingers, hypotonia, muscle atrophy, difficulty swallowing, GERD, recurring abdominal pain crises, gastric volvulus requiring surgery, autism spectrum disorder, global developmental delay, growth hormone deficiency 1 1 Johan den Dunnen
00467352 Pat_24 PubMed: Tong 2018 3-generation family, 1 affected, unaffected carrier father, unaffected non-carrier paternal grandparents F - China - - - - - NDD developmental delay, multiple joint contractures, muscular hypotonia, speech articulation difficulties, feeding difficulties in infancy, hypoglycemia, dyspnea 1 1 Johan den Dunnen
00467355 Pat_31 PubMed: Tong 2018 2-generation family, 1 affected, unaffected non-carrier parents F - China - - - - - NDD developmental delay, multiple joint contractures, muscular hypotonia, sleep apnea, feeding difficulties in infancy, abnormality of the skin, dysmorphic facial features 1 1 Johan den Dunnen
00467356 FamPatIII1 PubMed: Enya 2018 2-generation family, affectedsister/brother, unaffected parent F - Japan - - - - - NDD see paper; ..., weak cry, hypotonia, poor feeding, poor suck, respiratory failure, almond-shaped palpebral fissure, depressed nasal root, flattened philtrum, micrognathia, camptodactyly fingers, tracheal stoma issues, white matter atrophy, global developmental delay 1 2 Johan den Dunnen
00467357 FamPatIII2 PubMed: Enya 2018 brother M - Japan - - - - - NDD see paper; ..., breech presentation, hypotonia, poor suck, respiratory failure, high palate, micrognathia, camptodactyly fingers, micropenis, cryptorchidism, polyuria, hyposthesnuria, hypernatremia, idiopathic diabetes insipidus, tracheal stoma issues, seizures 1 1 Johan den Dunnen
00467358 Pat3 PubMed: Enya 2018 2-generation family, 1 affected, unaffected non-carrier parents F - Japan - - - - - NDD see paper; ..., fetal distress, respiratory failure, hypotonia, poor suck, cleft palate, micrognathia, camptodactyly, scoliosis, bilateral club foot, growth delay, panhypopituitarism, pituitary hypoplasia, global developmental delay, autism spectrum disorder, coarse facies, hypertelorism, thick eye brows, broad nasal root, seizures. 1 1 Johan den Dunnen
00467359 Fam1PatI PubMed: Jobling 2018 4-generation family, 3 affected (2F, M), 3 unaffected carrier parents F - Canada - - - - - ? see paper; ..., short stature; infancy increased subcutaneous fat, current BMI 19.4; moderate developmental delay, moderate intellectual disability; no eye anomalies; dysmorphisms; no heart defect; feeding problems; gastro-oesophageal reflux; contractures; scoliosis/kyphosis; no hypoglycaemic episodes; growth hormone deficiency; hypothyroidism; hypotonia 1 3 Johan den Dunnen
00467360 Fam2PatI PubMed: Jobling 2018 2-generation family, 2 affected sisters, unaffected parents F - Canada - - - - - ? see paper; ..., short stature; developmental delay, intellectual disability; nystagmus, microcornea, glaucoma; dysmorphisms; patent foramen ovale; no feeding problems; no gastro-oesophageal reflux; contractures; scoliosis/kyphosis; hypoglycaemic episodes; growth hormone deficiency; no hypothyroidism; hypotonia; MRI early myelination delay, hypothalamic hypoplasia 1 2 Johan den Dunnen
00467361 Fam2PatII PubMed: Jobling 2018 sister F - Canada - - - - - ? see paper; ..., short stature; developmental delay, intellectual disability; nystagmus, microcornea; dysmorphisms; no heart defect; no feeding problems; no gastro-oesophageal reflux; contractures; scoliosis/kyphosis; hypoglycaemic episodes; growth hormone deficiency; no hypothyroidism; hypotonia; MRI hypersignal pituitary stalk 1 1 Johan den Dunnen
00467362 Fam3PatI PubMed: Jobling 2018 2-generation family, 2 affected sisters, unaffected non-carrier parents F - Canada - - - - - ? see paper; ..., short stature; increased subcutaneous fat; severe developmental delay, severe intellectual disability; no eye anomalies; dysmorphisms; atrial septal defect; feeding problems; gastro-oesophageal reflux; contractures; scoliosis/kyphosis; hypoglycaemic episodes; growth hormone deficiency; no hypothyroidism; hypotonia; MRI frontal volume loss, decreased pituitary size 1 2 Johan den Dunnen
00467363 Fam3PatII PubMed: Jobling 2018 sister F - Canada - - - - - ? see paper; ..., short stature; increased subcutaneous fat; severe developmental delay, severe intellectual disability; no eye anomalies; dysmorphisms; no heart defect; feeding problems; gastro-oesophageal reflux; contractures; scoliosis/kyphosis; hypoglycaemic episodes; growth hormone deficiency; no hypothyroidism; hypotonia 1 1 Johan den Dunnen
00467364 Fam4PatI PubMed: Jobling 2018 2-generation family, 1 affected, unaffected carrier father F - Canada - - - - - ? see paper; ..., short stature; increased subcutaneous fat; severe developmental delay, severe intellectual disability; myopia, hyperopia, exotropia; dysmorphisms; no heart defect; feeding problems; gastro-oesophageal reflux; contractures; scoliosis/kyphosis; hypoglycaemic episodes; growth hormone deficiency; no hypothyroidism; hypotonia; MRI thin pituitary stalk, dilatation third ventricle possibly due to hypothalamic atrophy, ventriculomegaly 1 1 Johan den Dunnen
00467365 family PubMed: Bayat 2018 3-generation family, 12 affected (2F, 10M) M yes Denmark Morocco - - - - SHFYNG see paper; ..., neonatal hypotonia, feeding difficulties, developmental delay, hypogonadismand distal contractures 2 12 Johan den Dunnen
00467366 Pat1 PubMed: Matuszewska 2018 2-generation family, 1 affected, unaffected non-carrier parents F - Poland - - - - - SHFYNG acc. Patak-31397880 arthrogryposis, hypomimia, high nasal bridge, micrognathia, bitemporal narrowing, high palate, prominent chin, low-set ears, epicanthic fold, club foot, respiratory distress, poor suck, open mouth, developmental delay, autism spectrum disorder, psychomotor delay, short stature 1 1 Johan den Dunnen
00467367 Pat2 PubMed: Matuszewska 2018 2-generation family, 1 affected, unaffected non-carrier parents F - Poland - - - - - SHFYNG acc. Patak-31397880 polyhydraominos, respiratory failure, apnea, hypotonia, tracheal stoma issues, poor suck, distal arthrogryposis, up-slanting palpebral fissures, bitemporal narrowing, high nasal bridge, low-set ears, prominent chin, micrognathia, developmental delay, autism spectrum disorder 1 1 Johan den Dunnen
00467368 - PubMed: Negishi 2022 - - - Japan - - - - - ? neonatal hypotonia; poor suck in infancy (often requiring tube feeding); developmental delay; distal joint contractures; ... 1 1 Yutak Negishi
00467369 - PubMed: Negishi 2022 - - - Japan - - - - - ? neonatal hypotonia; poor suck in infancy (often requiring tube feeding); developmental delay; distal joint contractures; ... 1 1 Yutak Negishi
00467370 - PubMed: Negishi 2022 - M - Japan - - - - - ? neonatal hypotonia; poor suck in infancy (often requiring tube feeding); developmental delay; distal joint contractures; ... 1 1 Yutak Negishi
00467371 - PubMed: Negishi 2022 - - - Japan - - - - - ? neonatal hypotonia; poor suck in infancy (often requiring tube feeding); developmental delay; distal joint contractures; ... 1 1 Yutak Negishi
00467372 - PubMed: Negishi 2022 - - - Japan - - - - - ? neonatal hypotonia; poor suck in infancy (often requiring tube feeding); developmental delay; distal joint contractures; ... 1 1 Yutak Negishi
00467373 - PubMed: Negishi 2022 - - - Japan - - - - - ? neonatal hypotonia; poor suck in infancy (often requiring tube feeding); developmental delay; distal joint contractures; ... 1 1 Yutak Negishi
00467374 - PubMed: Negishi 2022 - - - Japan - - - - - ? neonatal hypotonia; poor suck in infancy (often requiring tube feeding); developmental delay; distal joint contractures; ... 1 1 Yutak Negishi
00467375 - PubMed: Negishi 2022 - - - Japan - - - - - ? neonatal hypotonia; poor suck in infancy (often requiring tube feeding); developmental delay; distal joint contractures; ... 1 1 Yutak Negishi
00467376 - PubMed: Negishi 2022 - - - Japan - - - - - ? neonatal hypotonia; poor suck in infancy (often requiring tube feeding); developmental delay; distal joint contractures; ... 1 1 Yutak Negishi
00467377 - PubMed: Negishi 2022 - - - Japan - - - - - ? neonatal hypotonia; poor suck in infancy (often requiring tube feeding); developmental delay; distal joint contractures; ... 1 1 Yutak Negishi
00467378 - PubMed: Negishi 2022 - - - Japan - - - - - ? neonatal hypotonia; poor suck in infancy (often requiring tube feeding); developmental delay; distal joint contractures; ... 1 1 Yutak Negishi
00467379 - PubMed: Negishi 2022 - M - Japan - - - - - ? neonatal hypotonia; poor suck in infancy (often requiring tube feeding); developmental delay; distal joint contractures; ... 1 1 Yutak Negishi
00467380 - PubMed: Negishi 2022 - - - Japan - - - - - ? neonatal hypotonia; poor suck in infancy (often requiring tube feeding); developmental delay; distal joint contractures; ... 1 1 Yutak Negishi
00467381 - PubMed: Negishi 2022 - - - Japan - - - - - ? neonatal hypotonia; poor suck in infancy (often requiring tube feeding); developmental delay; distal joint contractures; ... 1 1 Yutak Negishi
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