All individuals with variants in gene KIF21B

5 entries on 1 page. Showing entries 1 - 5.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 1 1 Yu Sun
00299927 - - - M no France - - - - - ACC Intellectual disability (ID), Borderline (HP:0006889) Hyperactivity (HP:0000752) Muscle stiffness (HP:0003552) 1 1 Juliette Godin
00299928 - - - M ? United States - - - - - microcephaly - 1 1 Juliette Godin
00299929 - - - F no Netherlands - - - - - ID NO brain MRI abnormalities; mild intellectual disability (HP:0001256); mild global developmental delay (HP:0011342); mild-moderate speech delay (HP:0000750) 1 1 Juliette Godin
00416233 Pat2 PubMed: Fregeau 2016 2 generation family, 1 affected, unaffected non carrier parents M - - Europe - - - - NDD see paper; ..., intrauterine growth retardation; intellectual disability/developmental delay/autism; no seizures; no hypotonia; no behavioral problems; no spastic quadriparesis; no ttention deficit hyperactivity disorder; no feeding/swallowing problems; thin corpus callosum; diminished white matter volume; no abnormal cerebellar vermis; ventriculomegaly; no small pons; abnormal hippocampus; no small anterior commissure; no delayed myelination; coloboma; no optic nerve atrophy/hypoplasia; no microphthalmia; no Peter’s anomaly; no iris anomalies; no blepharophimosis; no sensorineural hearing loss; choanal atresia; no cleft lip; ventricular septal defect; no patent foramen ovale; patent ductus arteriosus; anomalous pulmonary venous return; no gastroesophageal reflux disease; no duodenal atresia; no annular pancreas; no pyloric hypertrophy; no vesicoureteral reflux; cystic kidney; no hypospadias; cryptorchidism; no syndactyly; no hip dysplasia; no scoliosis; no lumbar lordosis; no tall stature (≥98th centile); short stature (≤2nd centile); no macrocephaly (≥98th centile); microcephaly (≤2nd centile); no third fontanel; no frontal bossing; no triangular face; no abnormal eyebrows; no hypotelorism; no hypertelorism; no upslanting palpebral fissures; no down-slanting palpebral fissures; no small palpebral fissures; no epicanthal folds; no deeply set eyes; no blepharaophymosis; abnormal ears; no preauricular pits; no bulbous nose; no anteverted nares; no flat philtrum; no full lips; no small mouth; no furrowed tongue; no abnormal teeth; no broad alveolar ridges; no high arched palate; no micrognathia; no small nipples; no inverted nipples; no small hands; no syndactyly; 5th finger clinodactyly; no digital anomalies; nail hypoplasia; no abnormal palmar creases; no widow’s peak; no sacral hair tuft; no cafe au lait spots 1 1 Johan den Dunnen
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