All individuals with variants in gene EBF3

27 entries on 1 page. Showing entries 1 - 27.
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     
00050476 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) F - United Kingdom (Great Britain) - - - Decipher - ? clinodactyly of the 5th finger, specific learning disability, joint hypermobility, lumbar hyperlordosis, gingival overgrowth 1 2 Johan den Dunnen
00103890 28327206-PatBH5789_1 PubMed: Eldomery 2017, Journal: Eldomery 2017 - - - United States - - - - - ? motor regression, hypotonia, wide-based gait, neurogenic bladder, dysplastic kidney 1 1 Johan den Dunnen
00143202 - - - M - (Germany) - - - - - ? Gait ataxia (HP:0002066); Delayed speech and language development (HP:0000750) 1 1 IMGAG
00362037 Fam1mother PubMed: Harms 2007 family, mother with 2 affected sibs F - - - - - - - ? no intellectual disability; no motor developmental delay; no speech delay; no ataxia; no seizures; normal tone; long face; deep philtrum; tall forehead; high nasal bridge; straight eyebrows; no strabismus; low set ears, posteriorly rotated ears; short and broad chin 1 3 Johan den Dunnen
00362038 Fam1Pat1 PubMed: Harms 2007 sib1 F - - - - - - - ? intellectual disability; motor developmental delay; speech delay; ataxia; seizures; normal tone; MRI brain normal; long face; deep philtrum; tall forehead; high nasal bridge; straight eyebrows; strabismus; low set ears, posteriorly rotated ears, small ear lobes; short and broad chin; thick vermillion of upper and lower lips 1 1 Johan den Dunnen
00362039 Fam1Pat2 PubMed: Harms 2007 sib2 M - - - - - - - ? intellectual disability; motor developmental delay; speech delay; ataxia; seizures; normal tone; long face; deep philtrum; tall forehead; high nasal bridge; straight eyebrows; strabismus; low set ears, posteriorly rotated ears; short and broad chin 1 1 Johan den Dunnen
00362040 Fam2Pat3 PubMed: Harms 2007 - M - - - - - - - ? intellectual disability; motor developmental delay; speech delay; ataxia; no seizures; mild hypotonia in early childhood, now normal tone; MRI brain normal; no long face; no deep philtrum; no tall forehead; no high nasal bridge; no straight eyebrows; strabismus; normal ears; normal chin; small mouth, short philtrum, micrognathia; syndactyly of the second and third toes, inguinal hernia (repaired) 1 1 Johan den Dunnen
00362041 Fam3Pat4 PubMed: Harms 2007 - M - - - - - - - ? intellectual disability; motor developmental delay; speech delay; ataxia; no seizures; normal tone; MRI brain cerebellar vermian hypoplasia; long face; deep philtrum; tall forehead; high nasal bridge; straight eyebrows; strabismus; small ear lobes; short and broad chin; thick vermillion of upper and lower lips; dysarthria, pectus excavatum, thin and scooped nails, orchiopexy for undescended testicles, very mild hypospadias, strabismus surgery, intoeing due to femoral anteversion, attention deficit disorder, gastroesophageal reflux, possible eosinophilic esophagitis 1 1 Johan den Dunnen
00362042 Fam4Pat5 PubMed: Harms 2007 - M - - - - - - - ? intellectual disability; motor developmental delay; speech delay; no seizures; truncal hypotonia; MRI brain normal; strabismus; flat nasal bridge 1 1 Johan den Dunnen
00362043 Fam5Pat6 PubMed: Harms 2007 - F - - - - - - - ? intellectual disability; motor developmental delay; speech delay; ataxia; no seizures; truncal hypotonia; MRI brain normal; deep philtrum; tall forehead; strabismus; relative macrocephaly, upward-slanting palpebral fissures, long eyelashes, straight hair 1 1 Johan den Dunnen
00362044 Fam6Pat7 PubMed: Harms 2007 - M - - - - - - - ? intellectual disability; motor developmental delay; speech delay; no ataxia; no seizures; hypotonia; MRI brain normal; no long face; no deep philtrum; no tall forehead; no high nasal bridge; no straight eyebrows; strabismus; normal ears; normal chin; hypertelorism; congenital heart disease (atrial septal defect) 1 1 Johan den Dunnen
00362045 Fam7Pat8 PubMed: Harms 2007 - F - - - - - - - ? intellectual disability; motor developmental delay; speech delay; wide-based bent knee, dystonic gait; hypotonia as infant, dystonia now; MRI brain normal; long face; deep philtrum; tall forehead; high nasal bridge; no straight eyebrows; strabismus; normal ears; prominent chin; facial asymmetry, submucous cleft palate; complete (right) and partial (left) syndactyly of the second and third toes, limited facial expression, neurogenic bladder (vesicostomy), feeding difficulties, swallowing of semisolid food only, mild scoliosis, dysplastic right kidney, bilateral vesicoureteric reflux, megacolon with intractable constipation, severe hip and knee contractures 1 1 Johan den Dunnen
00362046 Fam8Pat9 PubMed: Harms 2007 - F - - - - - - - ? intellectual disability; motor developmental delay; speech delay; no ataxia; no seizures; normal tone; long face; no deep philtrum; tall forehead; high nasal bridge; no straight eyebrows; no strabismus; broad chin; upward-slanting palpebral fissures, broad nasal bridge, smooth philtrum, thin upper lip, chin dimple 1 1 Johan den Dunnen
00362047 Fam9Pat10 PubMed: Harms 2007 - M - - - - - - - ? intellectual disability; motor developmental delay; speech delay; no seizures; truncal hypotonia; MRI brain cerebellar vermian hypoplasia; no long face; no deep philtrum; no tall forehead; no high nasal bridge; straight eyebrows; strabismus; low set ears; normal chin; thin lower lip; bilateral talipes equinovarus, phimosis, recurrent lower urinary-tract infections, constipation 1 1 Johan den Dunnen
00362048 Pat1 (272588) PubMed: Sleven 2007 - M - United Kingdom (Great Britain) white - - - - ? developmental delay; short stature 3 SDs below mean, proportionate; dolichocephaly, prominent forehead and occiput, deep-set eyes; left cryptorchidism, pectus excavatum, tapering fingers, pes planus, shortened great toes; gait ataxia; truncal ataxia; hypotonia; dysarthria; no tremor (postural, intention); no seizures, EEG normal; microcephaly (75th–91st percentile); high-pitched voice; no nystagmus; no saccadic abnormalities; no jerky eye movements; strabismus (esotropia); 2y-stand; 5y8m-walk; 6 years, 6 months; speech 50 words, just putting two words together; special school, intellectual disability (IQ71); no problems reported; MRI brain described as cerebellar cleft or absent vermis, cerebellar atrophy suggested from comparison of scans at ages 1 and 5 years, atrophy of pontine tegmentum 1 1 Johan den Dunnen
00362049 Pat2 (280219) PubMed: Sleven 2007 - M - United Kingdom (Great Britain) white;Caribbean - - - - ? developmental delay, hypermobile, ataxia; normal stature, weight 75th percentile, height 50th–70th percentile; hypertelorism; gait ataxia; truncal ataxia , but not prominent; hypotonia; mild dysarthria; no seizures, EEG normal; microcephaly (50th–75th percentile); high pain threshold; no nystagmus; slow eye movements; no jerky eye movements; strabismus; 9m-sit; 19m-stand; 24m-walk; 20 months; mild speech delay; mainstream school; mild emotional and behavioral difficulties and attention deficit; MRI brain normal 1 1 Johan den Dunnen
00362050 Pat3 (265391) PubMed: Sleven 2007 - M - United Kingdom (Great Britain) white - - - - ? developmental delay, hypotonia; mild proportionate short stature, height and weight below 0.4th percentile, no hormone investigations; broad forehead, straight eyebrows, tubular-shaped nose, broad nasal tip, small mouth with a slightly thin upper lip, and low-set, posteriorly rotated ears; fullness on backs of hands, short tapering fingers, clinodactyly of fifth finger, short toes; poor balance; no truncal ataxia; hypotonia; no dysarthria; no tremor (postural, intention); abnormal movements, EEG inconclusive; microcephaly; intermittent nystagmus on upgaze; no saccadic abnormalities; no jerky eye movements; left convergent squint; 2y-stand; >4y-walk; 3 years, slightly slurred, needs speech and language therapy; mild speech delay; mainstream school with 1:1 support; behavioral difficulties; first MRI non-specific features and delayed global myelination, repeat normal 1 1 Johan den Dunnen
00362051 Pat4 (262955) PubMed: Sleven 2007 - F - Ireland - - - - - ? developmental delay, hypotonia, poor feeding; short stature, proportionate; broad deep forehead, synophrys, hypertelorism, upslanting palpebral fissures, irregular dentition, downturned mouth, short neck, minimal facial expression; bilateral moderately severe vesicoureteric reflux and fixed talipes equinovarus, severe FTT, severe cyclical vomiting from 9 weeks; difficult to assess because of talipes; no apparent truncal ataxia; hypotonia; no dysarthria; no tremor (postural, intention); EEG: intermittent slow activity with occipital sharp features, nil epileptiform; no microcephaly; minimal facial expression; no nystagmus; no saccadic abnormalities; no jerky eye movements; blue sclerae, absent tears, left convergent strabismus; 2y-head control; 30m-sit; 4y-stand; not walking; first single words by 7 years, <20 single words by 10.5 years; speech <20 single words; special school; very placid; MRI brain cerebellar arachnoid cyst considered unlikely to be of clinical significance 1 1 Johan den Dunnen
00362052 Pat5 (263361) PubMed: Sleven 2007 - F - England - - - - - ? hypotonia, poor feeding; height, weight, and OFC all below 0.3rd percentile; deep-set eyes; vesicoureteric reflux, recurrent urinary-tract infections, neurogenic bladder, constipation; gait ataxia; no truncal ataxia; hypotonia; dysarthria; no tremor (postural, intention); single febrile seizure; no microcephaly; no nystagmus; no saccadic abnormalities; no jerky eye movements; strabismus; 12m-sit; 32m-walk; 40 single words by 3 years; speech sentences, some echolalia; special school; normal behavior; MRI brain subtle dysplasia cerebellar cortex 1 1 Johan den Dunnen
00362053 Pat6 (279995) PubMed: Sleven 2007 - F - Ireland - - - - - ? hypotonia; no short stature; normal face; vesicoureteric reflux and renal dysplasia, recurrent urinary-tract infections; 4y-gait ataxia; truncal ataxia; hypotonia; no dysarthria; no tremor (postural, intention); recent episodes suggestive of seizures are being analyzed by video telemetry; progressive microcephaly; nystagmus; no saccadic abnormalities; no jerky eye movements; Duane anomaly; 18m-head control; 2y-sit; not standing; not walking; no speech; special school; normal behavior; MRI brain normal 1 1 Johan den Dunnen
00362054 Pat7 (67-1) PubMed: Sleven 2007 family, 2 affected sibs M - India - - - - - ? hypotonia, gross motor delays; no short stature; deep-set eyes, thick eyebrows,; gait ataxia; truncal ataxia; hypotonia; no dysarthria; intention tremor; no seizures, EEG normal; no microcephaly; no nystagmus; no saccadic abnormalities; no jerky eye movements; 8m-sit; 18m-walk; first word at 19 months; normal speech; mainstream school; attentional and mild behavioral challenges; MRI brain normal 1 2 Johan den Dunnen
00362055 Pat8 (67-4) PubMed: Sleven 2007 sib F - India - - - - - ? hypotonia, delayed gross motor skills; no short stature; deep-set eyes, thick eyebrows; gait ataxia; truncal ataxia; hypotonia; no dysarthria; no tremor (postural, intention); no seizures, EEG normal; no microcephaly; no nystagmus; no saccadic abnormalities; no jerky eye movements; 8-9m-sit; 16m-walk; first word after 2 years, 10 words by 2.5 years; normal speech; mainstream school; attentional challenges; MRI brain normal 1 1 Johan den Dunnen
00362056 Pat1 PubMed: Chao 2017 - M - China;Japan - - - - - ? see paper; ...,expressive speech delay, mild dysmorphic facial features, hypotonia, global developmental delay, genital hypoplasia 1 1 Johan den Dunnen
00362057 Pat2 PubMed: Chao 2017 - F - United States African-American - - - - ? see paper; ..., expressive speech delay, mild dysmorphic facial features, hypotonia, global developmental delay 1 1 Johan den Dunnen
00362058 Pat3 PubMed: Chao 2017 - - - United States white - - - - ? see paper; ..., expressive speech delay, mild dysmorphic facial features, hypotonia, global developmental delay 1 1 Johan den Dunnen
00416024 203865 - - F no France - - - - - HADDS Initial suspicion of Cornelia de Lange syndrom, psychiatric disorder, mood disorder, no intellectual disability, no microcephaly, no limb abnormality, no facial dysmorphism 1 1 Andreas Laner
00434128 234550 - - M no Germany - - - - - HADDS Global developmental delay, Ataxia, Hypotonia, Strabismus, Absent speech 1 1 Andreas Laner
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.