All individuals with variants in gene RERE

53 entries on 1 page. Showing entries 1 - 53.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00029011 - PubMed: Nesin 2014 3-generation family, 1 affected M ? United States - - - - - STRMK see paper; congenital miosis, bleeding diathesis, thrombocytopenia, proximal muscle weakness 1 1 Johan den Dunnen
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 1 1 Danielle Bosch
00416214 204274 - - F no Germany - - - - - NEDBEH Birth in 36th week, developmental slowdown from 2nd year, now profound developmental/perceptual disorder, no malformations (incl. MRI skull), no dysmorphia, dichorial diamniote twin sister healthy. 1 1 Andreas Laner
00416232 Pat1 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; spastic quadriparesis; no ttention deficit hyperactivity disorder; feeding/swallowing problems; thin corpus callosum; diminished white matter volume; abnormal cerebellar vermis; no ventriculomegaly; small pons; no abnormal hippocampus; no small anterior commissure; delayed myelination; coloboma; optic nerve atrophy/hypoplasia; microphthalmia; no Peter’s anomaly; no iris anomalies; no blepharophimosis; sensorineural hearing loss; no choanal atresia; no cleft lip; ventricular septal defect; patent foramen ovale; no patent ductus arteriosus; no anomalous pulmonary venous return; gastroesophageal reflux disease; no duodenal atresia; no annular pancreas; no pyloric hypertrophy; no vesicoureteral reflux; no cystic kidney; 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; 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; no 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; 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 1 1 Johan den Dunnen
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
00416234 Pat3 PubMed: Fregeau 2016 2 generation family, 1 affected, unaffected non carrier parents M - - Hispanic - - - - NDD see paper; ..., no intrauterine growth retardation; intellectual disability/developmental delay/autism; no seizures; hypotonia; no behavioral problems; no spastic quadriparesis; no ttention deficit hyperactivity disorder; no 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; no optic nerve atrophy/hypoplasia; microphthalmia; Peter’s anomaly; iris anomalies; no blepharophimosis; no sensorineural hearing loss; no choanal atresia; no cleft lip; ventricular septal defect; no patent foramen ovale; no patent ductus arteriosus; no anomalous pulmonary venous return; no gastroesophageal reflux disease; duodenal atresia; annular pancreas; no pyloric hypertrophy; vesicoureteral reflux; no cystic kidney; no hypospadias; no cryptorchidism; syndactyly; no hip dysplasia; no scoliosis; no lumbar lordosis; no tall stature (≥98th centile); short stature (≤2nd centile); no macrocephaly (≥98th centile); no microcephaly (≤2nd centile); third fontanel; no frontal bossing; no triangular face; no abnormal eyebrows; hypotelorism; no hypertelorism; upslanting palpebral fissures; no down-slanting palpebral fissures; small palpebral fissures; epicanthal folds; no deeply set eyes; no blepharaophymosis; abnormal ears; 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; micrognathia; small nipples; no inverted nipples; no small hands; syndactyly; no 5th finger clinodactyly; digital anomalies; no nail hypoplasia; abnormal palmar creases; no widow’s peak; sacral hair tuft; no cafe au lait spots 1 1 Johan den Dunnen
00416235 Pat4 PubMed: Fregeau 2016 2 generation family, 1 affected, unaffected non carrier parents F - - Europe - - - - NDD see paper; ..., no intrauterine growth retardation; intellectual disability/developmental delay/autism; no seizures; hypotonia; behavioral problems; no spastic quadriparesis; no ttention deficit hyperactivity disorder; no feeding/swallowing problems; thin corpus callosum; diminished white matter volume; abnormal cerebellar vermis; no ventriculomegaly; no small pons; no abnormal hippocampus; no small anterior commissure; no delayed myelination; no coloboma; no optic nerve atrophy/hypoplasia; no microphthalmia; no Peter’s anomaly; no iris anomalies; no 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; no pyloric hypertrophy; vesicoureteral reflux; no cystic kidney; no syndactyly; hip dysplasia; no scoliosis; no lumbar lordosis; no tall stature (≥98th centile); no short stature (≤2nd centile); no macrocephaly (≥98th centile); no 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; epicanthal folds; 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; 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; no 5th finger clinodactyly; digital anomalies; no nail hypoplasia; abnormal palmar creases; no widow’s peak; no sacral hair tuft; no cafe au lait spots 1 1 Johan den Dunnen
00416236 Pat6 PubMed: Fregeau 2016 adopted F - - Europe;Hispanic - - - - NDD see paper; ..., no intrauterine growth retardation; intellectual disability/developmental delay/autism; no seizures; hypotonia; behavioral problems; no spastic quadriparesis; no ttention deficit hyperactivity disorder; no feeding/swallowing problems; no coloboma; no optic nerve atrophy/hypoplasia; no microphthalmia; no Peter’s anomaly; no iris anomalies; no 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; no gastroesophageal reflux disease; no duodenal atresia; no annular pancreas; no pyloric hypertrophy; no vesicoureteral reflux; no cystic kidney; no syndactyly; no hip dysplasia; no scoliosis; lumbar lordosis; no tall stature (≥98th centile); no short stature (≤2nd centile); macrocephaly (≥98th centile); no microcephaly (≤2nd centile); no third fontanel; no frontal bossing; triangular face; abnormal eyebrows; no hypotelorism; 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; anteverted nares; 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; small hands; no syndactyly; no 5th finger clinodactyly; digital anomalies; no nail hypoplasia; no abnormal palmar creases; no widow’s peak; no sacral hair tuft; no cafe au lait spots 1 1 Johan den Dunnen
00416237 Pat7 PubMed: Fregeau 2016 affected twin brother M - Netherlands - - - - - NDD see paper; ..., no intrauterine growth retardation; intellectual disability/developmental delay/autism; no seizures; hypotonia; no behavioral problems; no spastic quadriparesis; ttention deficit hyperactivity disorder; feeding/swallowing problems; thin corpus callosum; diminished white matter volume; no abnormal cerebellar vermis; no ventriculomegaly; no small pons; no abnormal hippocampus; small anterior commissure; no delayed myelination; no coloboma; no optic nerve atrophy/hypoplasia; no microphthalmia; no Peter’s anomaly; no iris anomalies; no blepharophimosis; no sensorineural hearing loss; no choanal atresia; cleft lip; no ventricular septal defect; no patent foramen ovale; no patent ductus arteriosus; no anomalous pulmonary venous return; no gastroesophageal reflux disease; no duodenal atresia; no annular pancreas; no pyloric hypertrophy; no vesicoureteral reflux; no cystic kidney; no hypospadias; no 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; down-slanting palpebral fissures; no small palpebral fissures; no epicanthal folds; no deeply set eyes; no blepharaophymosis; no 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; no 5th finger clinodactyly; no digital anomalies; no nail hypoplasia; abnormal palmar creases; no widow’s peak; no sacral hair tuft; no cafe au lait spots 1 1 Johan den Dunnen
00416238 Pat8 PubMed: Fregeau 2016 2 generation family, 1 affected, unaffected parents M - - Europe - - - - NDD see paper; ..., no intrauterine growth retardation; intellectual disability/developmental delay/autism; no seizures; no hypotonia; no behavioral problems; no spastic quadriparesis; ttention deficit hyperactivity disorder; feeding/swallowing problems; no thin corpus callosum; no diminished white matter volume; no abnormal cerebellar vermis; no ventriculomegaly; no small pons; no abnormal hippocampus; no small anterior commissure; no delayed myelination; no coloboma; no optic nerve atrophy/hypoplasia; no microphthalmia; no Peter’s anomaly; no iris anomalies; no 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; no pyloric hypertrophy; no vesicoureteral reflux; no cystic kidney; no hypospadias; no cryptorchidism; no syndactyly; no hip dysplasia; no scoliosis; no lumbar lordosis; no tall stature (≥98th centile); no short stature (≤2nd centile); no macrocephaly (≥98th centile); no microcephaly (≤2nd centile); no third fontanel; no frontal bossing; no triangular face; abnormal eyebrows; no hypotelorism; no hypertelorism; no upslanting palpebral fissures; down-slanting palpebral fissures; no small palpebral fissures; no epicanthal folds; no deeply set eyes; no blepharaophymosis; no abnormal ears; no preauricular pits; no bulbous nose; no anteverted nares; no flat philtrum; no full lips; no small mouth; no furrowed tongue; abnormal teeth; no broad alveolar ridges; no high arched palate; micrognathia; no small nipples; inverted nipples; small hands; no syndactyly; 5th finger clinodactyly; no digital anomalies; no nail hypoplasia; no abnormal palmar creases; widow’s peak; no sacral hair tuft; no cafe au lait spots 1 1 Johan den Dunnen
00416239 Pat9 PubMed: Fregeau 2016 2 generation family, 1 affected, unaffected non carrier parents M - Netherlands - - - - - NDD see paper; ..., no intrauterine growth retardation; intellectual disability/developmental delay/autism; no seizures; no hypotonia; no behavioral problems; no spastic quadriparesis; no ttention deficit hyperactivity disorder; feeding/swallowing problems; no thin corpus callosum; no diminished white matter volume; no abnormal cerebellar vermis; no ventriculomegaly; no small pons; no abnormal hippocampus; no small anterior commissure; delayed myelination; no coloboma; no optic nerve atrophy/hypoplasia; no microphthalmia; no Peter’s anomaly; no iris anomalies; no blepharophimosis; no sensorineural hearing loss; no choanal atresia; no cleft lip; ventricular septal defect; no patent foramen ovale; no patent ductus arteriosus; no anomalous pulmonary venous return; no gastroesophageal reflux disease; no duodenal atresia; no annular pancreas; no pyloric hypertrophy; no vesicoureteral reflux; no cystic kidney; no hypospadias; no cryptorchidism; no syndactyly; no hip dysplasia; scoliosis; no lumbar lordosis; no tall stature (≥98th centile); no short stature (≤2nd centile); 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; no deeply set eyes; no blepharaophymosis; no abnormal ears; no preauricular pits; no bulbous nose; no anteverted nares; no flat philtrum; no full lips; 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; no 5th finger clinodactyly; no digital anomalies; no nail hypoplasia; no abnormal palmar creases; no widow’s peak; no sacral hair tuft; cafe au lait spots 1 1 Johan den Dunnen
00416240 11654.p1;Pat10 PubMed: Krumm 2015, PubMed: Fregeau 2016 - F - United States - - - - - NDD see paper; ..., no 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; no coloboma; no optic nerve atrophy/hypoplasia; no microphthalmia; no Peter’s anomaly; no iris anomalies; no 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; no gastroesophageal reflux disease; no duodenal atresia; no annular pancreas; no pyloric hypertrophy; no vesicoureteral reflux; no cystic kidney; no syndactyly; no hip dysplasia; no scoliosis; no lumbar lordosis; 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; no 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; 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 1 1 Johan den Dunnen
00416258 Pat42 PubMed: Shimada 2015, PubMed: Fregeau 2016 - F - - - - - - - del 1p36 severe intellectual disability, hypotonia, feeding difficulty; cortical dysplasia, enlarged lateral ventricles, hypoplastic corpus callosum; patent ductus arteriosus, ventricular septal defect; hearing loss; cleft lip and palate; dislocated hip 1 1 Johan den Dunnen
00416259 Pat1p105-C PubMed: Paciorkowski 2011, PubMed: Fregeau 2016 - - - - - - - - - del 1p36 trichotillomania, bruxism; infantile spasms 1 1 Johan den Dunnen
00416260 Pat44 PubMed: Shimada 2015, PubMed: Fregeau 2016 - F - - - - - - - del 1p36 severe intellectual disability, hypotonia, feeding difficulty, temper tantrums; seizures; patent ductus arteriosus; nystagmus; hearing loss; cleft lip and palate; late closing anterior fontanelle, straight eyebrows; dental anomalies, hypothyroidism, constipation, ambiguous genitalia 1 1 Johan den Dunnen
00416261 Pat45 PubMed: Shimada 2015, PubMed: Fregeau 2016 - M - - - - - - - del 1p36 severe intellectual disability, hypotonia, feeding problems; seizures, infantile spasms; cortical hypoplasia, enlarged lateral ventricles, delayed myelination; ventricular septal defect, aortic stenosis; nystagmus; hearing loss; high palate; microcephaly, deeply set eyes, epicanthal folds, low-set ears, broad nasal root/bridge; ambiguous genetalia, cryptoorchidism, scrotal hypoplasia 1 1 Johan den Dunnen
00416262 Pat46 PubMed: Shimada 2015, PubMed: Fregeau 2016 - F - - - - - - - del 1p36 severe intellectual disability severe, hypotonia, feeding difficulty, poor social interaction; enlarged lateral ventricels; ventricular septal defect; left ventricular non-compaction; strabismus, ametropia, oculomotor disturbance; high palate; limb deformity 1 1 Johan den Dunnen
00416263 Pat1 PubMed: Campeau 2008, PubMed: Fregeau 2016 - F - - - - - - - del 1p36 developmental delay, hypotonia, ; single febrile seizure; enlarged lateral and third ventricles, bilateral colpocephaly, moderate to severe non-obstructive hydrocephalus; atrial septal defect,ventricular septal defect, patent ductus arteriosus, distal aortic arch hypoplastic; sensorineural hearing loss; submucosal cleft palate, velapharyngeal incompetence; prominent occiput, high forehead, large anterior fontanel, flat facial profile, deeply set eyes, narrow palpebral fissures, abnoramal, low-set, posteriorly-rotated ears, small nose, broad nasal root, micrognathia, left single palmar crease, short femurs; hypothyroidism, severe gastroesophageal reflux, decreased ossification of the skull and cervical spine, left pes cavus, calcaneovalgus deformity 1 1 Johan den Dunnen
00416264 - PubMed: Bursztejn 2009, PubMed: Fregeau 2016 - F - - - - - - - del 1p36 developmental delay; partial seizures, infantile spasms; cerebral malformations, agenesis of the corpus callosum, ventriculomegaly; atrial septal defect, ventricular septal defect; bilateral pupillary coloboma; deeply set eyes, low-set, posteriorly-rotated ears, brachydactyly, hirsuitism 1 1 Johan den Dunnen
00416265 Pat49 PubMed: Shimada 2015, PubMed: Fregeau 2016 - F - - - - - - - del 1p36 severe iintellectual disability, hypotonia, feeding difficulty; seizures; ebstein anomaly; microphthalmia; hearing loss; high palate; microcephaly, brachycephaly, straight eyebrows, deeply set eyes, epicanthal folds, low-set ears, broad nasal root/bridge, long philtrum, pointed chin; atresia of exterenal acoustic foramen 1 1 Johan den Dunnen
00416266 Pat6 PubMed: Arndt 2013, PubMed: Fregeau 2016 - F - - - - - - - del 1p36 developmental delay, hypotonia; atrial septal defect; left ventricular non-compaction; deeply set eyes, microcephaly 1 1 Johan den Dunnen
00416267 - PubMed: Nicoulaz 2011, PubMed: Fregeau 2016 - - - - - - - - - del 1p36 ; ventriculomegaly, marked pachygyria, absent septum pellucidum, thinned corpus callosum; tetralogy of Fallot; deeply set eyes, small palpebral fissures, low-set ears with thickened helices, camptodactyly, joint contractures, pointed chin; intestinal obstruction with suspected deudenal atresia 1 1 Johan den Dunnen
00416268 Pat47 PubMed: Shimada 2015, PubMed: Fregeau 2016 - F - - - - - - - del 1p36 severe intellectual disability severe, hypotonia, feeding difficulty; seizures; enlarged lateral venticles, hypoplastic corpus callosum; ventricular septal defect; nystagmus; microcephaly, deeply set eyes, low-set ears, broad nasal root/bridge, pointed chin; scoliosis, nasal cavity stenosis 1 1 Johan den Dunnen
00416269 Pat48 PubMed: Shimada 2015, PubMed: Fregeau 2016 - F - - - - - - - del 1p36 hypotonia, feeding difficulties; seizures; enlarged lateral ventricles, delayed mylenation, hypoplastic corpus callosum; atrial septal defect, patent ductus arteriosus, ventricular septal defect, pulmonary stenosis, ebstein anomaly; ametropia; microcephaly, brachycephaly, epicanthal folds, low-set ears, broad nasal root/bridge; scoliosis 1 1 Johan den Dunnen
00416270 DECIPHER 2353 PubMed: Fregeau 2016 - F - United Kingdom (Great Britain) - - - - - del 1p36 intellectual disability, spasticity, dysphagia; seizures; cardiomyopathy; myopia; sensorineural hearing loss; abnormality of midface, gingival overgrowth 1 1 Johan den Dunnen
00416271 1P-11-01 PubMed: Fregeau 2016 - F - United States - - - - - del 1p36 intellectual disability, developmental delay, feeding difficultites; intractable seizure disorder; patent ductus arteriosus; stones (medication related?); high compound myopic astigmatism, mild ptosis, occasional nystagmus; ears are low-set; brachycephaly, deeply set eyes, narrow palate, small hands and feet, joint contractures, low posterior hairline, hirsutism; short stature, central obesity, liver nodules, precoious puberty, premature ovarian failure, scoliosis 1 1 Johan den Dunnen
00416272 ECARUCA 4725 PubMed: Fregeau 2016 - F - - - - - - - del 1p36 feeding difficulty; patent ductus arteriosus, ventricular septal defect; microcephaly, hypertelorism, prominent ears, depressed/flat nasal bridge, short neck, wide-spaced nipples, sacral dimple/sinus, proximally-set halluces; hiatal hernia 1 1 Johan den Dunnen
00416273 Pat3 PubMed: Kang 2007, PubMed: Fregeau 2016 - F - - - - - - - del 1p36 hypotonia; atrial septal defect, patent ductus arteriosus, ventricular septal defect, cleft mitral valve, redundant tricuspid valve leaflets, mild pulmonary valve stenosis; severe biventricular hypertrophy; sensorineural hearing loss; bilateral cleft lip and palate; microcephaly, prominence of forehead and perietal bones, broad face, hypertelorism, epicanthal folds, bushy, arched eyebrows, posteriorly rotated ears, wide nose with a split appearance to the tip, digital contractures, hirsutism; bilateral nasolacrimal duct obstruction, gastroesophageal reflux 1 1 Johan den Dunnen
00416274 Pat16 PubMed: Arndt 2013, PubMed: Fregeau 2016 - M - - - - - - - del 1p36 intellectual disability, developmental delay; ventricular septal defect; cardiomyopathy, transient heart failure; ptosis; microcephaly, hirsutism 1 1 Johan den Dunnen
00416275 ECARUCA 4874 PubMed: Fregeau 2016 - M - - - - - - - del 1p36 severe intellectual disability, speech delay, ataxia, abnormal gait,; seizures; microcephaly; proportionate short stature, enlarged joints, joint stiffness/arthiritis/gout, hyperkeratosis, hyphydrotic or dry skin, erythema 1 1 Johan den Dunnen
00416276 Pat5 PubMed: Kang 2007, PubMed: Fregeau 2016 - F - - - - - - - del 1p36 intelleculal disability, developmental delay, feeding difficulty, ataxic unsteady gait with frequent falls, hypertonia, severe hyperactivity; tonic clonic seizures; partial anomalous pulmonary venous return with the left pulmonary veins draining into the innominate vein, wolf-parkinson-white; right-sided ptosis; microcephaly, midface hypoplasia, bushy eyebrows, long eyelashes, downslanting palpebral fissures, borderline low-set ears, depressed nasal bridge, prominent mandible, pointy chin, hirsutism; prenatal short stature, failure to thrive, hemivertebra at T9 1 1 Johan den Dunnen
00416277 DECIPHER 255695 PubMed: Fregeau 2016 - M - United Kingdom (Great Britain) - - - - - del 1p36 intelectual disability; facial abnormalities 1 1 Johan den Dunnen
00416278 DECIPHER 2483 PubMed: Fregeau 2016 - F - United Kingdom (Great Britain) - - - - - del 1p36 intelectual disability, developmental delay, feeding difficulty; secundum atrial septal defect; submucous cleft of the hard palate; microcephaly, mid-face retrusion, hypertelorism, prominent ears, down-turned corners of mouth, thick upper lip vermillion, thin lower lip vermillion; scoliosis 1 1 Johan den Dunnen
00416279 Pat2 PubMed: Kang 2007, PubMed: Fregeau 2016 - M - - - - - - - del 1p36 developmental delay, peripheral hypertonia; generalized tonic clonic seizures; enlarged cerebrospinal fluid spaces; two small right coronary artery fistulae terminating in the left atrium and right ventricle; microcephaly, prominent forehead, hypertelorism, epicanthal folds, high arched eyebrows, synophrys, long eyelashes, posteriorly rotated ears, overfolded helices, upturned nose, short neck, bilateral fifth finger clinodactyly, hirsuitims; gastroesophageal reflux 1 1 Johan den Dunnen
00416280 DECIPHER 2848 PubMed: Fregeau 2016 - F - United Kingdom (Great Britain) - - - - - del 1p36 intellectual diability 1 1 Johan den Dunnen
00416281 DECIPHER 250349 PubMed: Fregeau 2016 - M - United Kingdom (Great Britain) - - - - - del 1p36 intelectual disability; microcephaly, abnormality of the face, abnormal hair pattern; cryptorchidism 1 1 Johan den Dunnen
00416282 Pat50 PubMed: Shimada 2015, PubMed: Fregeau 2016 - F - - - - - - - del 1p36 severe intellectual disability severe, hypotonia, feeding difficulty; patent ductus arteriosus; strabismus; high palate; microcephaly, brachycephaly, epicanthal folds, low-set ears, broad nasal root/bridge; scoliosis 1 1 Johan den Dunnen
00416283 1P-08-01 PubMed: Fregeau 2016 - F - United States - - - - - del 1p36 developmental delay, ataxia, dyspraxia, wide-based gait; Brown syndrome, amblyopia 1 1 Johan den Dunnen
00416284 DECIPHER 255591 PubMed: Fregeau 2016 - F - United Kingdom (Great Britain) - - - - - del 1p36 intelectual disability, speech delay; microcephaly, localized hirsutism; abnormal stomach 1 1 Johan den Dunnen
00416285 DECIPHER 248448 PubMed: Fregeau 2016 - M - United Kingdom (Great Britain) - - - - - del 1p36 developmental delay, intellectual diability, feeding difficulty; mild pulmonary valve stenosis; sensorineural hearing loss; brachycephaly, flat occiput, mid-face retrusion, long eyelashes, prominent ear helix, flat nose, wide nasal bridge, hypoplastic philtrum, thin upper lip vermilion, abonormal mouth, broad thumbs, short phalanges, coarse hair, abnormal hair pattern, low posterior hairline; laryngomalacia, recurrent infections, cryptorchidism, proportionate short stature 1 1 Johan den Dunnen
00416286 DECIPHER 252259 PubMed: Fregeau 2016 - F - United Kingdom (Great Britain) - - - - - del 1p36 intelectual disability, speech delay; abnormal hair pattern; recurrent infections 1 1 Johan den Dunnen
00416287 Pat4 PubMed: Kang 2007, PubMed: Fregeau 2016 - M - - - - - - - del 1p36 developmental delay, hypotonia; small septum secundum atrial septal defect, perimembranous ventricular septal defect; dilated cardiomyopathy; frontal and parietal bossing, mild bitemporal narrowing, broad arched eyebrows with sparse appearance, short palpebral fissures, protruding ears, broad nasal bridge, mildly anteverted small nares, broad columella, smooth philtrum, bowed upper lip, high arched palate, prominent chin, short sternum, second and fifth digits with mild bilateral clinodactyly, short digits with mild bulbous finger tips, hirsutism; failure to thrive 1 1 Johan den Dunnen
00416288 Pat6 PubMed: Zaveri 2014 - F - - - - - - - del 1p36 ventricular septal defect; microcephaly 1 1 Johan den Dunnen
00416290 Pat1 PubMed: Jordan 2018 - M - - Hispanic - - - - NDD see paper; ..., developmental delay/intellectual disability/autism; no hypotonia; MRI brain normal; no structural eye anomalies; no sensorineural hearing loss; no choanal atresia; no congenital heart defects; no renal anomalies; no scoliosis 1 1 Johan den Dunnen
00416291 Pat2 PubMed: Jordan 2018 2 generation family, 1 affected, unaffected heterozygous carrier parents M - - Hispanic - - - - NDD see paper; ..., no developmental delay/intellectual disability/autism; no hypotonia; no structural eye anomalies; no sensorineural hearing loss; no choanal atresia; no congenital heart defects; multiple urinary tract infections first few months of life, radiographic studies no hydronephrosis, no vesicoureteral reflux; no scoliosis 1 1 Johan den Dunnen
00416292 Pat3 PubMed: Jordan 2018 2 generation family, 1 affected, unaffected heterozygous carrier parents M - - Europe - - - - NDD see paper; ..., developmental delay/intellectual disability/autism; hypotonia; MRI brain abnormal; no structural eye anomalies; sensorineural hearing loss; no choanal atresia; congenital heart defects; no renal anomalies; scoliosis 1 1 Johan den Dunnen
00416293 Pat4 PubMed: Jordan 2018 2 generation family, 1 affected, unaffected heterozygous carrier parents F - - Europe - - - - NDD see paper; ..., developmental delay/intellectual disability/autism; hypotonia; MRI brain abnormal; no structural eye anomalies; no sensorineural hearing loss; no choanal atresia; no congenital heart defects; no renal anomalies; no scoliosis 1 1 Johan den Dunnen
00416294 Pat5 PubMed: Jordan 2018 2 generation family, 1 affected, unaffected heterozygous carrier parents F - - Japan;Europe - - - - NDD see paper; ..., developmental delay/intellectual disability/autism; hypotonia; MRI brain mildly prominent CSF spaces; no structural eye anomalies; no sensorineural hearing loss; no choanal atresia; congenital heart defects; no renal anomalies; no scoliosis 1 1 Johan den Dunnen
00416295 Pat6 PubMed: Jordan 2018 2 generation family, 1 affected, unaffected heterozygous carrier parents M - India Asia - - - - NDD see paper; ..., developmental delay/intellectual disability/autism; no hypotonia; MRI brain normal; no structural eye anomalies; sensorineural hearing loss; no choanal atresia; no congenital heart defects; no renal anomalies; no scoliosis 2 1 Johan den Dunnen
00416296 Pat7 PubMed: Jordan 2018 2 generation family, 1 affected, unaffected heterozygous carrier parents M - - Europe 33d - - - NDD see paper; ..., 33d-died, hypotonia; MRI brain abnormal; structural eye anomalies; choanal atresia; congenital heart defects; no renal anomalies; no scoliosis 1 1 Johan den Dunnen
00416297 Pat8 PubMed: Jordan 2018 2 generation family, 1 affected, unaffected heterozygous carrier parents F - - Europe - - - - NDD see paper; ..., developmental delay/intellectual disability/autism; no hypotonia; structural eye anomalies; sensorineural hearing loss; choanal atresia; congenital heart defects; no renal anomalies; scoliosis 1 1 Johan den Dunnen
00416298 Pat9 PubMed: Jordan 2018 2 generation family, 1 affected, unaffected heterozygous carrier parents F - - Europe - - - - NDD see paper; ..., developmental delay/intellectual disability/autism; no hypotonia; no structural eye anomalies; no sensorineural hearing loss; no choanal atresia; no congenital heart defects; no renal anomalies; no scoliosis 1 1 Johan den Dunnen
00434648 F6 PubMed: Carss 2014 affected fetus F - United Kingdom (Great Britain) - - - - - ? abdominal situs inversus (HP:0003363); asplenia (HP:0001746); abnormality of the liver (HP:0001392); right atrial isomerism (HP:0011536); abnormality of the left ventricle (HP:0001711); abnormality of the coronary sinus (HP:0011642); ventricular septal defect (HP:0001629); atrioventricular canal defect (HP:0006695); double outlet right ventricle (HP:0001719); abnormality of the pulmonary veins (HP:0011718); right aortic arch (HP:0012020); persistent left superior vena cava (HP:0005301); abnormality of the heart (HP:0001627); small chin (HP:0000331); flat forehead (HP:0004425); flat nose (HP:0000457); micrognathia (HP:0000347); abnormality of the head (HP:0000234); hypoplasia of the thymus (HP:0000778); bilateral trilobed lungs (HP:0011861) 2 1 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.