All individuals with variants in gene TBC1D23

8 entries on 1 page. Showing entries 1 - 8.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
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Owner     
00131886 FamIPatIV1 PubMed: Marin-Valencia 2017 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents M yes Egypt - >16y - - - PCH Born 40w (weight 3 kg, length 50 cm, HC 32.2 cm); last examination 16y (weight 38 kg(-2.65 SD), length 143 cm(-3.56 SD), HC 48 cm(-4.77 SD)) generalized weakness (HP:0003324); delayed gross motor, can walk alone (HP:0002194); delayed fine motor (HP:0010862); delayed language (HP:0000750); delayed social (HP:0012434); dysarthria (HP:0001260); truncal ataxia (HP:0002078); appendicular ataxia (HP:0002070); gait ataxia (HP:0002066); wide-based gait (HP:0002136); unsteady gait (HP:0002317); muscular hypotonia (HP:0001252); recurrent respiratory infections (HP:0002205); sepsis (HP:0100806); muscle atrophy (HP:0003202); no apnea (-HP:0002104); no hearing deficit (-HP:0000365); no dizziness (-HP:0002321); no dysphagia (-HP:0002015) 1 2 Thymo van Camerijk
00131887 FamIPatIV5 PubMed: Marin-Valencia 2017 FamIPatIV5 M yes Egypt - >06y - - - PCH Born 38w (weight 2.8 kg, length 48 cm, HC 32 cm); last examination 6y (weight 14 kg(-2.96 SD), length 103 cm(-2.44 SD), HC 44.5 cm(-5.27 SD)) generalized weakness (HP:0003324); delayed gross motor, can only sit (HP:0002194); delayed fine motor (HP:0010862); delayed language (HP:0000750); delayed social (HP:0012434); minimal dysphagia (HP:0002015); truncal ataxia (HP:0002078); appendicular ataxia (HP:0002070); wide-based gait (HP:0002136); muscular hypotonia (HP:0001252); recurrent respiratory infections (HP:0002205); sepsis (HP:0100806); no apnea (-HP:0002104); no hearing deficit (-HP:0000365); no dizziness (-HP:0002321) 1 1 Thymo van Camerijk
00131888 II-III-1 PubMed: Marin-Valencia 2017 non-identical twins (II-III-1 & II-III-2) F yes Egypt - >04y - - - PCH Born 37w (weight 1.6 kg, length 48 cm, HC 32 cm); last examination 4y (weight 14.5 kg(-0.79 SD), length 103 cm(+0.50 SD), HC 43.5 cm(-3.96 SD)) generalized weakness (HP:0003324); delayed gross motor, can walk alone (HP:0002194); delayed fine motor (HP:0010862); delayed language (HP:0000750); delayed social (HP:0012434); truncal ataxia (HP:0002078); appendicular ataxia (HP:0002070); non-ambulatory(HP:0002540); muscular hypotonia (HP:0001252); hyporeflexia (HP:0001265); strabismus (HP:0000486); recurrent respiratory infections (HP:0002205); hypoplasia of labia minora (HP:0000064) 1 2 Thymo van Camerijk
00131889 II-III-2 PubMed: Marin-Valencia 2017 non-identical twins (II-III-1 & II-III-2) F yes Egypt - >04y - - - PCH Born 37w (weight 1.5 kg, length 47 cm, HC 31.5 cm); last examination 4y (weight 11.5 kg(-2.62 SD), length 97 cm(-0.89 SD), HC 41.5 cm(-5.25 SD)) generalized weakness (HP:0003324); delayed gross motor, walks supported (HP:0002194); delayed fine motor (HP:0010862); delayed language (HP:0000750); delayed social (HP:0012434); truncal ataxia (HP:0002078); appendicular ataxia (HP:0002070); wide-based gait (HP:0002136); muscular hypotonia (HP:0001252); hyporeflexia (HP:0001265); strabismus (HP:0000486); recurrent respiratory infections (HP:0002205); muscle atrophy (HP:0003202); hypoplasia of labia minora (HP:0000064) 1 1 Thymo van Camerijk
00275590 - - - M - - - - - - - ? Global developmental delay (HP:0001263); Microcephaly (HP:0000252); Talipes equinovarus (HP:0001762); Abnormality of brain morphology (HP:0012443); Intellectual disability (HP:0001249); Aplasia/Hypoplasia of the cerebellum (HP:0007360); Focal-onset seizure (HP:0007359); Abnormality of coordination (HP:0011443) 1 1 IMGAG
00319922 PKMR52 PubMed: Riazuddin 2017 - - - Pakistan Pathan - - - - ID severe intellectual disability, speech delay, attention deficit hyperactivity disorder, spasticity, hypotelorism, squint, large and low set ears 1 1 Johan den Dunnen
00387746 M268 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents once removed - yes Iran Persia - - - - ID syndromic intellectual disability, microcephaly (SD-7.5), leukoencephalopathy 1 2 Johan den Dunnen
00395614 RP-3055 PubMed: Perea-Romero 2021 - - - Spain - - - - - retinal disease cataract, glaucoma, rod-cone dystrophy, severe myopia, conductive hearing impairment, intellectual disability, renal atrophy, renal insufficiency 1 1 LOVD
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