All individuals with variants in gene HNRNPK

8 entries on 1 page. Showing entries 1 - 8.
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00229587 - - - F - - - - - - - ? Cleft palate (HP:0000175); Atrial septal defect (HP:0001631); Global developmental delay (HP:0001263) 1 1 IMGAG
00296017 Pat1 Journal: Au 2015 2-generation family, 1 affected, unaffected non-carrier parents M - Canada - - - - - AUKS birth weight 50th%, length 10-50th%, head circumference 10-50th%; 13y weight 10th%, length >10th%, head circumference >50th%; ridged metopic suture, dolicocephaly sagittal and lambdoid craniosynostosis, long face; long downslanting palpebral fissures proptosis, ptosis broad lateral eyebrows; underdeveloped helices hearing loss (conductive and sensorineural); wide nasal ridge, hypoplastic alae nasi; open bite, downturned mouth, high palate, bifid uvula prominent midline groove of tongue missing molar; widely spaced nipples; 2 small ventricular septal defects; constipation in early childhood; cryptochordism; hip dysplasia, scoliosis extra lumbar vertebrae and multiple vertebral segmentation defects, elbow contractures; planovalgus feet, large hallux, crowded toes, decreased creases on feet; sacral dimple with coccygeal appendage, decreased sweating, intermittent facial rash; hypotonia, hyporeflexia, high pain tolerance; mild intellectual disability, walks independently, commnicates with many words, short phrases and uses signs and devices; normal brain syrinx T7-T9,T12, terminal lipomyelomeningocele 1 1 Johan den Dunnen
00296018 Pat2 Journal: Au 2015 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - AUKS birth weight 90th%, length >95th%, head circumference 75th%; 9y weight 50th%, length 50-75th%, head circumference 75th%; ridged metopic suture, turricephaly long face; hyperopia long palpebral fissures, ptosis optic nerve pit, megalocornea, lagophthalmos, sparse lateral eyebrows; underdeveloped thick helices; wide nasal ridge, cleft of alae nasi; open, downturned mouth high palate, normal uvula prominent midline groove / bifid tongue missing molar and incisor; pectus excavatum, inverted nipples, supernumerary nipples; bicuspid aortic valve aortic root dilation; gastroesophageal reflux, cyclic vomiting, constipation, GI dysmotility, G-tube fed; crytopchordism, vesicoureteral reflux, neurogenic bladder hydronephrosis; hip dysplasia, scoliosis, extra lumbar vertebrae, hyperextensible; post axial polydactyly overlapping toes; sacral dimple decreased sweating, intermittent rash; hypotonia, hyporeflexia, high pain tolerance, migraine; mild-moderate intellectual disability, ADHD, walks with assistance, communicates with few words, many signs, and uses devices; hypomyelination 1 1 Johan den Dunnen
00296019 patient Journal: Maystadt 2020 2-generation family, 1 affected, unaffected non-carrier parents F - Belgium white;Thailand - - - - Okamoto see paper; ... 1 1 Johan den Dunnen
00296020 patient PubMed: Okamoto 2019 2-generation family, 1 affected, unaffected non-carrier parents M - Japan - - - - - Okamoto birth 35w gestation, weight was 3,340g, length 48cm, head circumference 33.6cm; 5y-length was 96.6cm (−2.5SD), weight 14.7kg (−1.4SD), head circumference 53 cm (+1.4SD); lumbar scoliosis, no craniosynostosis; MRI brain cerebral atrophy; intellecutual disability (language delay); motor delay, hypotonia; no microcephaly; no craniosynostosis; metopic ridge; no nodular heterotopia; no hypoplastic corpus callosum; no spinal syrinx; midface hypoplasia; hypertrichosis; long palpebral fissures; ptosis; prominent eyes; no optic nerve abnormality; broad nasal bridge with hypoplastic alae nasi; downturned beaked mouth; no preaulicular pits; abnormal helix; no hearing loss; cleft palate; maloccclusion/open bite; open mouth/wide mouth; midline groove tongue; webbed neck; hydronephrosis/vesicoureteral reflux; stenosis of ureteropelvic junction; no cryptorchidism; cardiac anomaly; gastrointestinal anomaly, omphalocele; loose hypermobile joints; no vertebral segmentation abnormality; scoliosis; congenital hip dysplasia; talipes; no polydactyly 1 1 Johan den Dunnen
00296021 patient PubMed: Pua 2014 - F no Mexico - - - - - ? birth weight <50%, length 10%, head circumference 25%; 6m, head circumference <3%; broad face low anterior hairline; epicanthal folds; low set, cupped right ear; depressed nasal tip; cleft soft palate; large atrial septal defect, respiratory difficulty; uterine didelphys; hip dysplasia, proximal upper extremity and distal lower extremity shortening; hindfoot deformity; hypotonia; severe delay; thalamostriate vasculopathy, thin corpus callosum, hypomyelination 1 1 Johan den Dunnen
00296022 patient PubMed: Hancarova 2015 - F - Czech Republic - - - - - ? birth weight <50%, length 25%, head circumference <10%; 13y weight <3%, length <3%, head circumference <3%; narrow forehead low posterior hairline; hypermetropia long downslanting palpebral fissures; large, low set ears; wide nasal ridge; open bite, large downturned mouth; atrioventricular septal defect, R atrial hemangioma; vesicoureteral reflux; hip dysplasia; single palmar crease talipes equinovarus, overlapping toes; hypotonia, later spasticity; severe intellectual disability 1 1 Johan den Dunnen
00300649 - - - M - (Germany) - - - - - ? Cryptorchidism (HP:0000028); Testicular atrophy (HP:0000029); Ureteral stenosis (HP:0000071); Vesicoureteral reflux (HP:0000076); Facial hypotonia (HP:0000297); Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263); Joint hypermobility (HP:0001382); Hip dysplasia (HP:0001385); Abnormal facial shape (HP:0001999); Nail dysplasia (HP:0002164); Areflexia of lower limbs (HP:0002522); Genu recurvatum (HP:0002816); Short stature (HP:0004322); Pes valgus (HP:0008081) 1 1 IMGAG
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