All individuals with variants in gene TTI1

13 entries on 1 page. Showing entries 1 - 13.
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     
00150225 26539891-FamBAB4452 PubMed: Karaca 2015 - - - - - - - family structure in paper - ? intellectual diability, microcephaly 1 1 Johan den Dunnen
00431335 Fam1Pat1(IV2) PubMed: Serey-Gaut 2023 4-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes Turkey - - - - - NDD see paper; ..., microcephaly; short stature; cervical hyperpigmentation, premature greying hair, acrocyanosis; moderate developmental delay; 14m-walk, instability in childhood; first words delayed, few sentences; school specialized structure; works in specialized structure; premature puberty; moderate intellectual disability; dysmorphism; no hypotonia; no spasticity/hypertonia; no movement disorder; mainly calm with rare aggressive outburst; no seizures; 2y-vesico-ureteral reflux surgery; kyphoscoliosis, genu varum; premature puberty, regressive bilateral gynecomastia; strabismus surgery at age 12 1 2 Johan den Dunnen
00431336 Fam1Pat2(IV3) PubMed: Serey-Gaut 2023 brother M yes Turkey - - - - - NDD see paper; ..., OFC -1.5SD; short stature; moderate developmental delay; 6m-sit; 12m-walk, instability in childhood; first words delayed, few sentences; school specialized structure; mild intellectual disability; dysmorphism; no hypotonia; no spasticity/hypertonia; no movement disorder; normal behavior; no seizures; abdominal ultrasound ectopic right kidney; coxa vara, scoliosis; right cryptorchidism, mild regressive gynecomastia; no ophthalmic anomalies 1 1 Johan den Dunnen
00431337 Fam2Pat3(II1) PubMed: Serey-Gaut 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Argentina;Australia - - - - - NDD see paper; ..., microcephaly; height -1SD; 4y-facial telangiectasia; moderate developmental delay; 10m-sit; 20m-walk; first words delayed, simple conversational speech; school specialized; moderate intellectual disability; no dysmorphism; infancy-hypotonia; no spasticity/hypertonia; hyperkinetic choreiform movements, ataxic gait; no seizures; normal reproductive organs; bilateral esotropia 2 1 Johan den Dunnen
00431338 Fam3Pat4(II2) PubMed: Serey-Gaut 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United Kingdom (Great Britain) Europe - - - - NDD see paper; ..., microcephaly; short stature; severe developmental delay; 8-9m-sit; 23-24m-walk; delayed speech; school special education; minimal autonomy; no signs of puberty; moderate/severe intellectual disability; dysmorphism; no hypotonia; no spasticity/hypertonia; choreo-athetoid movements in upper limbs, gait ataxia; poor concentration, excessive drooling, sleep problems; no seizures; MRI brain abnormal; abdominal ultrasound normal; no skeletal anomalies; normal reproductive organs; hypermetropia 2 1 Johan den Dunnen
00431339 Fam4Pat5(II3) PubMed: Serey-Gaut 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - Europe - - - - NDD see paper; ..., OFC 53 cm (-1.2SD); short stature; severe developmental delay; 10m-sit (with support); 3y10m-walk with assistance, no independent walking; non-verbal, 3 signs; school special education; no autonomous feeding, no autonomous locomotion; normal puberty; severe intellectual disability; dysmorphism; infancy-hypotonia; spasticity/hypertonia lower limbs; choreo-athetoid movements in upper limbs; sporadic spontaneous laughter; seizures; MRI brain abnormal; scoliosis, hip dysplasia, bilateral equinovalgus; normal reproductive organs; no ophthalmic anomalies 2 1 Johan den Dunnen
00431340 Fam5Pat6(III5) PubMed: Serey-Gaut 2023 3-generation family, 4 affected 2F, 2M), unaffected heterozygous carrier parents/relatives F yes Turkey - - - - - NDD see paper; ..., microcephaly; short stature; severe developmental delay; 1y-sit; 5y-walk; 6y-first words, 19y-no sentences; school special education; primary puberty, secondary amenorrhea; severe intellectual disability; dysmorphism; no hypotonia; spasticity, hypertonia; waddling gait; self mutilation (biting, hitting head); no seizures; abdominal ultrasound normal; scoliosis, delayed bone age 8-9y; primary and secondary amenorrhea; strabismus 1 4 Johan den Dunnen
00431341 Fam5Pat7(III6) PubMed: Serey-Gaut 2023 brother M yes Turkey - - - - - NDD see paper; ..., microcephaly; short stature; severe developmental delay; 1y-sit; 5y-walk; 1.5y-first words, 7.5y-no sentences; school special education; prepubertal; severe intellectual disability; dysmorphism; no hypotonia; spasticity, hypertonia; waddling gait; no seizures; MRI brain abnormal; abdominal ultrasound normal; scoliosis; hypoplastic genitalia; strabismus 1 1 Johan den Dunnen
00431342 Fam6Pat8(II1) PubMed: Serey-Gaut 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - Europe - - - - NDD see paper; ..., microcephaly; short stature; severe developmental delay; 11m-sit; 2y2m-walk; 2.5y-first words (few words); school special education; minimal autonomy; prepubertal; nonspecific dysmorphism; hypotonia; truncal ataxia, gait ataxia, hypotonia; no seizures; MRI brain abnormal; no skeletal anomalies; normal reproductive organs; no ophthalmic anomalies 2 1 Johan den Dunnen
00431343 Fam7Pat9(II2) PubMed: Serey-Gaut 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Mexico - - - - - NDD see paper; ..., microcephaly; short stature; moderate developmental delay; 7-8y-sit; not walking; non-verbal; school special education; no autonomy; 6y-precocious puberty; severe intellectual disability; dysmorphism; poor head control; spasticity/hypertonia lower extremities; choreo-athetoid movements in upper limbs; seizures; MRI brain abnormal; abdominal ultrasound multicystic atrophic right kidney, vesicoureteral reflux; advanced bone age; small labia minora, small clitoris; cortical visual impairment, nystagmus, myopia both eyes 2 1 Johan den Dunnen
00431344 Fam8Pat10(II2) PubMed: Serey-Gaut 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - Europe - - - - NDD see paper; ..., microcephaly; short stature; mild/moderate developmental delay; 9m-sit; 24m-walk; 20m-first words, language delay, speak short sentences; school special education; no signs of puberty; mild/moderate intellectual disability; mild dysmorphism; hypotonia; no spasticity/hypertonia; no movement disorder; aggressivity hyperactivity, impulsivity, separation anxiety; seizures; MRI brain abnormal; abdominal ultrasound normal; external tibial torsion, femoral retrotorsion; normal reproductive organs; strabismus (right esotropia), post surgical repair 2 1 Johan den Dunnen
00431345 Fam9Pat11(II1) PubMed: Serey-Gaut 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - Africa-N - - - - NDD see paper; ..., microcephaly; height -1SD; moderate developmental delay; 22m-walk; no speech; prepubertal; mild dysmorphism; no hypotonia; no spasticity/hypertonia; no movement disorder; aggressivity, stereotypy, sleeping disorder; 6m-febrile seizures; MRI brain normal; no skeletal anomalies; normal reproductive organs; no ophthalmic anomalies 2 1 Johan den Dunnen
00467795 Fam058PatBAB6950 PubMed: Charng 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Saudi Arabia - - - - - NDD developmental delay, infantile spasms, abnormal sulcation, abnormal gyration, cerebral atrophy, hypotonia, hypertelorism, short nose 1 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.