Disease #04282 (CVI (cerebral visual impairment (CVI)))

Official abbreviation CVI
Name cerebral visual impairment (CVI)
OMIM ID -
Inheritance -
Individuals reported having this disease 29
Phenotype entries for this disease 27
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2015-06-15 15:37:52 +02:00 (CEST)
Date last edited 2015-06-15 15:38:26 +02:00 (CEST)


Individuals

29 entries on 1 page. Showing entries 1 - 29.
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00025011 26350515-Pat12 PubMed: Bosch 2015, Journal: Bosch 2015, PubMed: Bosch 2016, Journal: Bosch 2016 - M ? Netherlands white - - - - CVI, ID see paper; ... - F12, PGAP1 4 1 Danielle Bosch
00039389 Pat1/Pat77/Pat1 PubMed: Bosch 2016, Journal: Bosch 2016, PubMed: Lelieveld 2016, PubMed: Rodríguez-Palmero 2021, Journal: Rodríguez-Palmero 2021 2-generation family, 1 affected, unaffected non carrier parents M no Netherlands - - - - - CVI, ID birth 39w, weight 3640g; height 118cm (P50), OFC 51,5cm (P40); delayed motor mevelopment; normal language development; intellectual disability; autism; normal muscle tone; no epilepsy; MRI normal; nystagmus; normal hearing; long eyelashes; full nasal tip, long columella; thin upper lip; large ears; joint laxity; fragmented palmar creases, short distal finger and toe phalanges, longitudinally grooved fingernails, fetal finger pads, syndactyly II-III toes, clinodactyly IV-V toes - DLG4 1 1 Danielle Bosch
00039390 - PubMed: Bosch 2016, Journal: Bosch 2016 - M no Netherlands - - - - - CVI, ID - - AKAP9, FLNA, KAL1 4 1 Danielle Bosch
00039391 - PubMed: Bosch 2016, Journal: Bosch 2016 - M no Aruba - - - - - CVI, ID - - HSPG2, TENM3 3 1 Danielle Bosch
00039392 - PubMed: Bosch 2016, Journal: Bosch 2016 - M no Netherlands - - - - - CVI, ID - - - - 1 Danielle Bosch
00039393 - PubMed: Bosch 2016, Journal: Bosch 2016 - M no Netherlands - - - - - CVI, ID - - - - 1 Danielle Bosch
00039394 - PubMed: Bosch 2016, Journal: Bosch 2016 - F no Netherlands - - - - - CVI, ID - - SLC35A2, SRP72 2 1 Danielle Bosch
00039395 - PubMed: Bosch 2016, Journal: Bosch 2016 - F no Netherlands - - - - - CVI, ID - - AHDC1 1 1 Danielle Bosch
00039396 - PubMed: Bosch 2016, Journal: Bosch 2016 - M no Netherlands - - - - - CVI, ID - - ARHGEF10L, GABRB2 2 1 Danielle Bosch
00039397 - PubMed: Bosch 2016, Journal: Bosch 2016 - F no Netherlands - - - - - CVI, ID see paper; ... - AMOT 1 1 Danielle Bosch
00039398 - PubMed: Bosch 2016, Journal: Bosch 2016 - M no Netherlands - - - - - CVI, ID see paper; ... - MAP3K15, OR52M1, PPFIA4, UHMK1 4 1 Danielle Bosch
00039399 - PubMed: Bosch 2016, Journal: Bosch 2016 - F yes - - - - - - CVI, ID see paper; ... - DCAF6, FAM166B, GRIN1, PHKB, SLC25A16, SPTBN5 7 1 Danielle Bosch
00039400 Pat1;Pat13 PubMed: Bosch 2014, Journal: Bosch 2014, PubMed: Bosch 2016, Journal: Bosch 2016 - M no Netherlands - >12y - - - BBSOAS, CVI, ID Protruding ear (HP:0000411); Abnormality of the nares (HP:0005288); Thick nasal alae (HP:0009928); Abnormality of the thorax (HP:0000765); Long fingers (HP:0100807); Long toe (HP:0010511); Reduced visual acuity (HP:0007663); Nystagmus (HP:0000639); Optic atrophy (HP:0000648); Abnormal macular morphology (HP:0001103); Abnormal timing of flash visual evoked potentials (HP:0030461); Abnormal timing of pattern onset/offset visual evoked potentials (HP:0030458); Eccentric visual fixation (HP:0025549); Intellectual disability, moderate (HP:0002342); Cerebral visual impairment (HP:0100704); Neurodevelopmental delay (HP:0012758); Visual field defect (HP:0001123); Strabismus (HP:0000486) - NHLRC2, NR2F1, PLAC1L, POF1B 6 1 Danielle Bosch
00039401 - PubMed: Bosch 2016, Journal: Bosch 2016 - M no Netherlands - - - - - CVI, ID see paper; ... - CNGA2, ZMAT1 2 1 Danielle Bosch
00039402 - PubMed: Bosch 2016, Journal: Bosch 2016 - M - Netherlands - - - - - CVI, ID see paper; ... - CACNA1F, RAB11FIP1, XKRX 3 1 Danielle Bosch
00039403 - PubMed: Bosch 2016, Journal: Bosch 2016 - M no Netherlands - - - - - CVI, ID see paper; ... - - - 1 Danielle Bosch
00039404 - PubMed: Bosch 2016, Journal: Bosch 2016 - M no Netherlands - - - - - CVI, ID see paper; ... - KCTD19, SOX5, TRIOBP 3 1 Danielle Bosch
00039405 - PubMed: Bosch 2016, Journal: Bosch 2016 - F no Netherlands - - - - - CVI, ID see paper; ... - MUT 1 1 Danielle Bosch
00039406 - PubMed: Bosch 2016, Journal: Bosch 2016 - M - Netherlands - - - - - CVI, ID see paper; ... - GRIN2B, ZFP30 2 1 Danielle Bosch
00039407 - PubMed: Bosch 2016, Journal: Bosch 2016 - M no Netherlands - - - - - CVI, ID see paper; ... - ATP6V1A, PCDH11X, UFSP2 3 1 Danielle Bosch
00039408 - PubMed: Bosch 2016, Journal: Bosch 2016 - F no - - - - - - CVI, ID see paper; ... ITPRIPL1 ITPRIPL1 2 1 Danielle Bosch
00039409 Pat22;Pat5 PubMed: Bosch 2016, Journal: Bosch 2016, PubMed: Fregeau 2016 2 generation family, 1 affected, unaffected heterozygous carrier parents M no Netherlands - - - - - CVI, ID see paper; ..., no intrauterine growth retardation; intellectual disability/developmental delay/autism; seizures; no hypotonia; no behavioral problems; no spastic quadriparesis; no ttention deficit hyperactivity disorder; feeding/swallowing problems; thin corpus callosum; diminished white matter volume; abnormal cerebellar vermis; ventriculomegaly; no small pons; no abnormal hippocampus; no small anterior commissure; no delayed myelination; no coloboma; optic nerve atrophy/hypoplasia; no microphthalmia; no Peter’s anomaly; no iris anomalies; blepharophimosis; no sensorineural hearing loss; no choanal atresia; no cleft lip; no ventricular septal defect; no patent foramen ovale; no patent ductus arteriosus; no anomalous pulmonary venous return; gastroesophageal reflux disease; no duodenal atresia; no annular pancreas; pyloric hypertrophy; vesicoureteral reflux; no cystic kidney; no hypospadias; no cryptorchidism; no syndactyly; no hip dysplasia; no scoliosis; no lumbar lordosis; tall stature (≥98th centile); no short stature (≤2nd centile); no macrocephaly (≥98th centile); no microcephaly (≤2nd centile); no third fontanel; 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; deeply set eyes; blepharaophymosis; abnormal ears; no preauricular pits; bulbous nose; no anteverted nares; no flat philtrum; full lips; no small mouth; no furrowed tongue; abnormal teeth; broad alveolar ridges; high arched palate; no micrognathia; no small nipples; no inverted nipples; no small hands; no syndactyly; no 5th finger clinodactyly; no digital anomalies; no nail hypoplasia; no abnormal palmar creases; no widow’s peak; no sacral hair tuft; no cafe au lait spots RERE, SLC1A1, SYNE1 RERE, SLC1A1, SYNE1 4 1 Danielle Bosch
00039410 Individual 2 PubMed: Bosch 2014, Journal: Bosch 2014, PubMed: Bosch 2016, Journal: Bosch 2016 - F no Netherlands - >02y - - - BBSOAS, CVI, ID Epicanthus (HP:0000286); Anteverted nares (HP:0000463); Wide mouth (HP:0000154); Thick vermilion border (HP:0012471); Protruding ear (HP:0000411); Uplifted earlobe (HP:0009909); Tapered finger (HP:0001182); Prominent fingertip pads (HP:0001212); Slow-growing hair (HP:0002217); Muscular hypotonia (HP:0001252); Reduced visual acuity (HP:0007663); Strabismus (HP:0000486); Visual field defect (HP:0001123); Optic atrophy (HP:0000648); Abnormal timing of flash visual evoked potentials (HP:0030461); Neurodevelopmental delay (HP:0012758); Cerebral visual impairment (HP:0100704) ACP6, NR2F1 ACP6, NR2F1 2 1 Danielle Bosch
00039411 - PubMed: Bosch 2016, Journal: Bosch 2016 - F - Netherlands - - - - - CVI, ID see paper; ... KCNQ3 KCNQ3 1 1 Danielle Bosch
00039412 - PubMed: Bosch 2016, Journal: Bosch 2016 - M no Netherlands - - - - - CVI, ID see paper; ... ALAS2, APOPT1, SLC6A13 ALAS2, APOPT1, SLC6A13 3 1 Danielle Bosch
00043810 Individual 4 PubMed: Bosch 2014, Journal: Bosch 2014 - F - - - >24y - - - CVI Tapered finger (HP:0001182); Abnormal finger flexion creases (HP:0006143); 2-3 toe syndactyly (HP:0004691); Feeding difficulties in infancy (HP:0008872); Reduced visual acuity (HP:0007663); Strabismus (HP:0000486); Nystagmus (HP:0000639); Cataract (HP:0000518); Optic atrophy (HP:0000648); Cerebral visual impairment (HP:0100704); Intellectual disability, mild (HP:0001256) NR2F1 NR2F1 1 1 Marc Ferre
00043811 Individual 5 PubMed: Bosch 2014, Journal: Bosch 2014 - F - - - >04y - - - CVI Prominent nasal bridge (HP:0000426); Prominent antihelix (HP:0000395); Clinodactyly of the 5th finger (HP:0004209); Feeding difficulties in infancy (HP:0008872); Reduced visual acuity (HP:0007663); Strabismus (HP:0000486); Abnormality of eye movement (HP:0000496); Nystagmus (HP:0000639); Visual field defect (HP:0001123); Optic atrophy (HP:0000648); Neurodevelopmental delay (HP:0012758);Cerebral visual impairment (HP:0100704) NR2F1 NR2F1 1 1 Marc Ferre
00448132 Family 2 - Rad et al., submitted F no Brazil - - - - - CVI, SPG , Bilaterally increased P100 wave latency with normal amplitude - MPDZ 2 1 Barbara Vona
00448134 Family 4 - Rad et al., submitted M yes - - - - - - CVI, DD, epilepsy, HYC2 , Bilateral macular colobomata, Prenatally diagnosed, Treated with lacosamide and lamotrigine - MPDZ 1 1 Barbara Vona
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