All individuals with variants in gene SPOP

8 entries on 1 page. Showing entries 1 - 8.
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00289405 Pat1 PubMed: Nabais 2020 - F - - - - - - - NDD birth 40w3d, length 47cm (10th-25th), weight 3.033kg (10th-25th), head 32cm (-3SD) at 16d NA (microcephaly); height 104.5cm (~50th), weight 15.3kg (10th-25th), head 44cm (-4SD); prenatal long bones (<-3 SD); congenital microcephaly; jaundice requiring phototherapy; motor delay; walk-19m; speech delay; 2y10m-60 words; no epilepsy; hypertonia; MRI brain 5y-simplified gyri; decreased stranger anxiety; brachycephaly, prominent glabella; dysplastic simple ears with thickened helix; highly arched eyebrows, underdeveloped supraorbital ridges, downslanted narrow palpebral fissures, deeply set eyes; prominent nasal bridge,; flat philtrum; pointed chin; clinodactyly 5th digits bilaterally; normal feet; sensorineural hearing loss; no ophthalmologic abnormality; no cardiovascular abnormality; no respiratory abnormality; no gastrointestinal abnormality; no urogenital abnormality; no skin abnormality; no endocrine abnormality; no sleep disturbance; sacral dimple 1 1 Johan den Dunnen
00289406 Pat2 PubMed: Nabais 2020 - M - - - - - - - NDD birth 39w, weight 2.409kg (3rd), head 33.5cm (10th-25th); height 77cm (10th-25th), weight 8.8kg (-2.3SD), head 40.5cm (-5SD); no prenatal anomalies; congenital microcephaly; jaundice that selfresolved, respiratory difficulties requiring tracheostomy; motor delay; walk-~36m; speech delay; 6y-vocalising; severe intellectual disability; autoagression; narrow forehead, low anterior hairline; normal ears; highly arched eyebrows, synophrys, long eyelashes, epicanthus, telecanthus, narrow palpebral fissures; wide and bulbous nasal tip, underdeveloped nasal alae; flat philtrum; pointed chin; normal hands; normal feet; bilateral hearing loss; bilateral optic nerve hypoplasia; no cardiovascular abnormality; 3m-tracheostomy; 3m-gastrostomy; bilateral vesicoureteric reflux; no skin abnormality; no endocrine abnormality 1 1 Johan den Dunnen
00289407 Pat3 PubMed: Nabais 2020 - F - - - - - - - NDD birth 33w5d, length 46.4cm (3rd-10th), weight 2.575kg (3rd-10th), head 35cm (25th-50th); height 65.1cm (-2.5SD), weight 5.6kg (-4SD), head 49cm (+3.5SD); prenatal polyhydramnios, breech presentation; congenital heart disease; hypotonia, swallowing dysfunction, feeding difficulties; motor delay; speech delay; no epilepsy; central hypotonia; MRI brain 4m-enlargement all ventricles, prominent subarachnoid spaces, bifrontal extra-axial fluid spaces, 17m-mildly increased ventriculomegaly, symmetrically dysmorphic hippocampi; frontal bossing, triangular face; low-set small ears; hypertelorism, deep set eyes; low and wide nasal bridge, wide and bulbous nasal tip, short nose; wide gums; micrognathia; normal hands; normal feet; no hearing impairment; small optic discs; small ventricular septal defect;, pulmonary stenosis and supravalvular pulmonary stenosis, mild right ventricular outflow obstruction; no respiratory abnormality; choking episodes, gastroesophageal reflux disease, Sandifer syndrome, 6m-gastrostomy; no urogenital abnormality; no skin abnormality; no endocrine abnormality; no sleep disturbance; failure to thrive 1 1 Johan den Dunnen
00289408 Pat4 PubMed: Nabais 2020 - M - - - - - - - NDD birth 39w, length 47cm (10th-25th), weight 2.700kg (3rd-10th); height 151.8cm (-3.1SD), weight 49.7kg (3rd), head (25th); prenatal hypoplastic left heart; congenital heart disease; bradycardia, dysrhytmia, thrombocytopenia; motor delay; walk-36m; speech delay; first words 4y; intellectual disability (IQ46); epilepsy; left hemiparesis, intractable migraines, dystonia, chorea; MRI brain 16y-borderline enlarged ventricles, slightly small corpus callosum splenium; overfriendliness, attention deficit hyperactivity disorder, agitation; normal cranium/normal forehead; low-set small ears; hypertelorism; short, low nasal bridge, upturned nares; high-arched palate; pointed chin; normal hands; normal feet; no hearing impairment; abnormality refraction; variant of hypoplastic left heart syndrome (atrial septal defect, small left ventricule, mitral valve and aorta) with left ventricular outflow tract obstruction (subaortic membrane, bicuspid aortic valve, coartation descending aorta); episode of hemoptysis; no astrointestinal abnormality; (hypogonadism; no skin abnormality; testosterone treatment; sleep apnea; failure to thrive in infancy, bleeding disorder with platelet dysfunction, chronic jaundice, mild scoliosis, osteoporosis, vitamin D deficiency 1 1 Johan den Dunnen
00289409 Pat5 PubMed: Nabais 2020 - M - Netherlands - - - - - NDD birth 38w, weight 3.070kg (10th-25th); height 178.5cm (50th-75th), weight 73kg (50th-75th), head 56.4cm (75th-90th); no prenatal anomalies; motor delay; walk-17m; speech delay; intellectual disability (IQ45); epilepsy; MRI brain 5y normal; autism; large forehead; protruding ears; hypertelorism, long palpebral fissures, sparse and thin eyebrows; normal nose; normal mouth; pointed chin; no hearing impairment; no ophthalmologic abnormality; urogenital abnormality; hypothyroidism; sleep disturbance; 1 1 Johan den Dunnen
00289410 Pat6 PubMed: Nabais 2020 - F - Netherlands - - - - - NDD birth 37w, length 47cm (10th-25th), weight 3.000kg (10th-25th); height 172cm (90th-97th), weight 89kg (97th), head 57cm (+2.5SD); no prenatal anomalies; congenital heart disease, bilateral cleft lip/palate; motor delay; walk-24m; speech delay; first words~5y; intellectual disability (IQ53); severe temper tantrums; large forehead; low-set posteriorly rotated ears; hypertelorism, sparse and thin eyebrows; prominent nasal bridge, bulbous nasal tip; bilateral cleft lip/palate; normal chin; distally tapered, long fingers; clinodactyly 5th fingers; short wide feet, pes cavus, short broad halluces; no hearing impairment; strabismus; atrial septal defect; no respiratory abnormality; no astrointestinal abnormality; no skin abnormality; sleep apnea; 1 1 Johan den Dunnen
00289411 Pat7 PubMed: Nabais 2020 - F - - - - - - - NDD birth 40w, length 54.6cm (97th), weight 3.800 kg (75th-90th), (macrocephalic); height 158.8cm (25th-50th), weight 90.7kg (+2.5SD), head 5y-56cm (+4SD); multicystic kidney dysplasia; hypotonia, respiratory and feeding difficulties; motor delay; walk-24m; speech delay; mild intellectual disability; no epilepsy; MRI brain normal; anxiety; large forehead; normal ears; asymmetric palpebral fissures; prominent and wide nasal bridge, wide and bulbous nasal tip; thin lips; norma chin; normal hands; normal feet; no hearing impairment; abnormality refraction; patent ductus arteriosus, small ventricular septal defect; no respiratory abnormality; chronic constipation, gastroesophageal reflux disease; left multicystic kidney; eczema; hypothyroidism; sleep apnea; unusual fat distribution 1 1 Johan den Dunnen
00334710 - PubMed: Maranhao 2015 analysis 25 Pedigrees - - Pakistan - - - - - retinal disease - 1 6 LOVD
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