All individuals with variants in gene TBCK

27 entries on 1 page. Showing entries 1 - 27.
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00016586 - PubMed: Xia 2014 2-generation family, 1 affected F no (United States) European - - - - ? 18m-no words, no sitting, hypotonia, failure to thrive, low-set ears, esotropia, upslanting palpebral fissures, micrognathia, flat nasal bridge, laryngomalacia, obstructive sleep apnea 1 1 Marianne Vos (LOVD-team)
00065095 27040691-Pat9-2 PubMed: Bhoj 2016, Journal: Bhoj 2016 family, affected sister/brother, Pat9-2 M - Mexico;Puerto Rico - >02y - - - ID no regression (-HP:0002376), no ventilator dependence (-HP:0004887), paucity of cerebral white matter (HP:0012430), mild hyperintensity and central volume loss on T2-weighted FLAIR, progressively severe hypotonia (HP:0001252), no seizures (-HP:0001250), coarse facial features (HP:0000280), localized hirsutism epicanthal folds (HP:0009889), tented upper lip (HP:0010804), long philtrum (HP:0000343); severe intellectual disability (HP:0010864); motor delay (HP:0001270), neurodevelopmental delay (HP:0012758); no speech (HP:0001344) 2 1 Pieter Klap
00065096 - PubMed: Bhoj 2016, Journal: Bohj 2016 family, 2-affected sister/brother, Pat1-1 M yes - Saudi 05y - - - ID sloped forehead (HP:?), bulbous nose (HP:0000414), tented upper lip (HP:0010804), upward slant of palpebral fissures (HP:0000582), abnormal eye movements (HP:0000496), asthma (HP:0002099), eczema (HP:0000964), diffuse brain atrophy (HP:0002283), abnormal white-matter signal intensity (HP:?), no sitting (HP:?), no ventilator dependence (-HP:0005946); severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); motor delay (HP:0001270); speech delay (HP:0000750) 1 1 Jamie Zeegers
00065097 27040691-Pat9-1 PubMed: Bhoj 2016, Journal: Bhoj 2016 family, affected sister/brother, Pat9-1 F - Mexico;Puerto Rico - >10y - - - ID progressively severe hypotonia (HP:0001252), no sitting, no regression (HP:0002376), no ventilator dependence (-HP:0004887); MRI bilateral frontal white-matter hyperintensities on T2-weighted FLAIR; no seizures (-HP:0001250), metopic ridge (HP:0005487), thick bushy eyebrows (HP:0000574), high-arched palate (HP:0000218); small pectus excavatum (HP:0000767), mild scoliosis (HP:0002650), diastasis recti (HP:0001540), clinodactyly (HP:0030084), partial syndactyly toes 2/3 (HP:0004691); prenatal renal pyelectasis (HP:0010945), hepatic calcifications (HP:0006559); severe intellectual disability (HP:0010864); motor delay (HP:0001270), neurodevelopmental delay (HP:0012758); no speech (HP:0001344) 2 1 Pieter Klap
00065098 - PubMed: Bhoj 2016, Journal: Bohj family, 2-affected sister/brother, Pat1-2 F yes - Saudi >11y - - - ID tented upper lip (HP:0010804), sloped forehead (HP:?), bulbous nose (HP:0000414), hypothyroidism (HP:0000821), recurrent candidiasis (HP:0012204), diffuse brain atrophy (HP:0002283), no ventilator dependence (-HP:0005946); severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); motor delay (HP:0001270); no speech (HP:0001344) 1 1 Jamie Zeegers
00065099 - PubMed: Bhoj 2016, Journal: Bhoj 2016 family, Pat2-1 M no - Syrian >05y - - - ID Macrocephaly (HP:0000256), strabismus (HP:0000486), nystagmus (HP:0000639), periventricular leukomalacia (HP:0006970), posterior thinning of the corpus callosum and braintstem (HP:?), ex vacuo dilation of the vertricles (HP; ?), ventilator dependence (HP:0005946); birth premature contractions; severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); motor delay (HP:0001270); no speech (HP:0001344) 1 1 Jamie Zeegers
00065100 27040691-Pat8-1 PubMed: Bhoj 2016, Journal: Bhoj 2016 - F - Dominican Republic;Puerto Rico - >12y - - - ID tracheostomy ventilator dependence (HP:0004887), no regression (-HP:0002376), severe hypotonia (HP:0001252), reduced reflexes (HP:0001315), seizures (HP:0001250), abnormal white matter intensity (HP:0012696), very coarse facial features (HP:0000280), macrocephaly (HP:0000256), bushy eyebrows (HP:0000574), Macroglossia (HP:0000158), severe scoliosis (HP:0002650), neurogenic bladder (HP:0000011), hyperthyroidism (HP:0000836); severe intellectual disability (HP:0010864); motor delay (HP:0001270), neurodevelopmental delay (HP:0012758); poor speech (HP:0002465) 1 1 Pieter Klap
00065101 - PubMed: Bhoj 2016, Journal: Bohj 2016 family, Pat3-1 M yes - Pakistani >11y - - - ID mild prominence of the lateral ventricles (HP:?), epicanthal folds (HP:0000286), broad nasal bridge (HP:0000431), deep-set eyes (HP:0000490), autism (HP:0000717), bipolar disorder (HP:0007302), high-arched palate (HP:0000218), broad fingers (HP:0001500) and toes (HP:0001837), mild scoliosis (HP:0002650), no ventilator dependence (-HP:0005946); moderate intellectual disability (HP:0002342); mild global developmental delay (HP:0011342), motor delay (HP:0001270); mild speech delay (HP:0000750) 1 1 Jamie Zeegers
00065102 - PubMed: Bhoj 2016, Journal: Bhoj 2016 family, 2-affected sisters, Pat4-1 F no - European, mixed >04y - - - ID mild macrocephaly (HP:0004482), no unusual facial features (-HP:0000271), no seizures (-HP:0001250), reduced reflexes, MRI normal, no ventilator dependence (-HP:0004887), independent walking; ventriculomegaly (HP:0010952); moderate intellectual disability (HP:0002342); severe global developmental delay (HP:0011344); motor delay (HP:0001270); poor speech (HP:0002465) 2 1 Jamie Zeegers
00065103 27040691-Pat7-1 PubMed: Bhoj 2016, Journal: Bhoj 2016 - M - Palestine - >06y - - - ID no regression (-HP:0002376), no ventilator dependence (-HP:0004887), severe hypotonia (HP:0001252), areflexia lower limbs (HP:0002522), pectus excavatum (HP:0000767), pulmonic stenosis (HP:0001642), no seizures (-HP:0001250), discrete abnormality periventricular and bilateral parietal white matter (HP:0002518); severe intellectual disability (HP:0010864); motor delay (HP:0001270), neurodevelopmental delay (HP:0012758); poor speech (HP:0002465) 1 1 Pieter Klap
00065104 - PubMed: Bhoj 2016, Journal: Bohj 2016 family, 2-affected sisters, Pat4-2 F no - European, mixed >02y - - - ID severe intellectual disability (HP:0010864); mild global developmental delay (HP:0011342), motor delay (HP:0001270); no speech delay (-HP:0000750) 2 1 Jamie Zeegers
00065105 27040691-Pat6-2 PubMed: Bhoj 2016, Journal: Bhoj 2016 family, affected sister/brother, Pat6-2 F - Algeria - >03y - - - ID no regression (-HP:0002376), no ventilator dependence (-HP:0004887), hypotonia (HP:0001252), reflexes present, no seizures (-HP:0001250), macrocephaly (HP:0000256), broad forehead (HP:0000337), short neck (HP:0000470) discrete abnormality periventricular and bilateral parietal white matter (HP:0002518), delayed skeletal maturation (HP:0002750); moderate intellectual disability (HP:0002342); motor delay (HP:0001270); speech delay (HP:0000750) 1 1 Pieter Klap
00065106 27040691-Pat6-1 PubMed: Bhoj 2016, Journal: Bhoj 2016 family, affected sister/brother, Pat6-1 M - Algeria - >12y - - - ID no regression (-HP:0002376), no ventilator dependence (-HP:0004887), moderate hypotonia (HP:0001252), reflexes present, no seizures (-HP:0001250), broad forehead (HP:0000337), bulbous nose (HP:0000414), open mouth (HP:0000194), thick lips (HP:0012471), deep palate (HP:0000174), mandibular prognathia (HP:0000303), hearing impairment (HP:0000365), behavioral abnormality (HP:0000708), delayed skeletal maturation (HP:0002750); severe intellectual disability (HP:0010864); motor delay (HP:0001270); no speech (HP:0001344) 1 1 Pieter Klap
00065107 27040691-Pat5-1 PubMed: Bhoj 2016, Journal: Bhoj 2016 - F - (United States) Hispanic >10y - - - ID regression (HP:0002376), ventilator dependence (HP:0004887), severe hypotonia (HP:0001252), Reduced reflexes (HP:0001315), cortical atrophy (HP:0002120), seizures (HP:0001250), Synophrys (HP:0000664), long eyelashes (HP:0000527), macroglossia (HP:0000158), macrocephaly (HP:0000256), Hirsutism (HP:0001007), Coarse facial features (HP:0000280), Corneal opacity (HP:0007957), central adrenal insufficiency (HP:0011734), growth hormone deficiency (HP:0000824), scoliosis (HP:0002650); severe intellectual disability (HP:0010864); motor delay (HP:0001270); no speech (HP:0001344) 1 1 Pieter Klap
00065108 - PubMed: Chong 2016, Journal: Chong 2016 family, mother and sister with cleft lip and palate, sister with arrhythmia, PatA-ll-1 M no - Puerto Rican >14y - - - encephalopathy, neonatal, severe see paper: developmental disability (HP:?), developmental regression (HP:0002376), severe hypotonia (HP:0006829), cataracts (HP:0000518), ptosis (HP:0000508), cortical visual impairment (HP:0100704), no abnormal hearing (-HP:0100704), right preauricular pit (HP:0004467), gingival hyperplasia (HP:0000212), macroglossia (HP:0000158), neurogenic bladder (vesicostomy) (HP:0000011), subdural hematoma (unclear etiology) (HP:0100309), metabolic stroke (HP:?), osteoporosis (three femur fractures) (HP:0000939), hypertriglyceridemia (HP:0002155), Bitemporal narrowing (HP:0000341), arched eyebrows (HP:0002553), no deep-set eyes (-HP:0000490), high nasal bridge (HP:0000426), anteverted nares (HP:0000463), exaggerated cupid’s bow (HP:0002263), coarse features (HP:0000280), macroglossia (HP:0000158), gingival hyperplasia (HP:0000212) 1 1 Jamie Zeegers
00065111 - PubMed: Chong 2016, Journal: Chong 2016 4-generation family, two affected cousins, unaffected parents; PatB-IV-4, two affected brothers with hematologic disorder F yes - Lebanese >04y - - - encephalopathy, neonatal, severe see paper: developmental disability (HP:?), developmental regression (HP:0002376), severe hypotonia (HP:0006829), cortical visual impairment (HP:0100704), no abnormal hearing (-HP:0100704), osteoporosis (three femur fractures) (HP:0000939), mild virilization of external genitalia as a neonate (subsequently normalized) (HP:?), turricephaly (HP:0000262), Bitemporal narrowing (HP:0000341), arched eyebrows (HP:0002553), deep-set eyes (HP:0000490), high nasal bridge (HP:0000426), anteverted nares (HP:0000463), exaggerated cupid’s bow (HP:0002263), no coarse features (-HP:0000280), no macroglossia (-HP:0000158), gingival hyperplasia (HP:0000212) 1 1 Jamie Zeegers
00065114 - PubMed: Chong 2016, Journal: Chong 2016 4-generation family, two affected cousins, unaffected parents, PatB-IV-6 F yes - Lebanese 10y - - - encephalopathy, neonatal, severe see paper: developmental disability (HP:?), developmental regression (HP:0002376), severe hypotonia (HP:0006829), visual impairment (HP:0000505), no abnormal hearing (-HP:0100704), osteoporosis (three femur fractures) (HP:0000939), muscle fasciculations (HP:0002380), increased muscle bulk (HP:0030236), elevated creatine kinase (800 IU/L) during viral infection (not repeated) (HP:0003236), Bitemporal narrowing (HP:0000341), arched eyebrows (HP:0002553), deep-set eyes (HP:0000490), high nasal bridge (HP:0000426), anteverted nares (HP:0000463), exaggerated cupid’s bow (HP:0002263), no coarse features (-HP:0000280), no macroglossia (-HP:0000158) 1 1 Jamie Zeegers
00065115 - PubMed: Chong 2016, Journal: Chong 2016 family, similarly affected sister (deceased), unaffected heterozygous carrier parents M yes - Egyptian >02y - - - encephalopathy, neonatal, severe see paper: developmental disability (HP:?), no developmental regression (-HP:0002376), severe hypotonia (HP:0006829), bilateral optical atrophy (HP: ?), severe esotropia (HP:0000565), no abnormal hearing (-HP:0100704), right-sided aortic arch (HP:0012020), 11 ribs (HP:0000878), turricephaly (HP:0000262), hypertrichosis (HP:0000998), bitemporal narrowing (HP:0000341), no arched eyebrows (-HP:0002553), no deep-set eyes (-HP:0000490), high nasal bridge (HP:0000426), anteverted nares (HP:0000463), exaggerated cupid’s bow (HP:0002263), coarse features (HP:0000280), no macroglossia (-HP:0000158) 1 2 Jamie Zeegers
00065116 - PubMed: Chong 2016, Journal: Chong 2016 no family history, unaffected heterozygous carrier parents M no - Puerto Rican >14y - - - encephalopathy, neonatal, severe see paper: developmental disability (HP:?), developmental regression (HP:0002376), severe hypotonia (HP:0006829), cortical visual impairment (HP:0100704), no abnormal ERG (-HP:0000512), no abnormal hearing (-HP:0100704), hypertriglyceridemia (HP:0002155), tongue fasciculations (HP:0001308), intermittent hyponatremia (HP:0002902), osteoporosis (HP:0000939), bitemporal narrowing (HP:0000341), arched eyebrows (HP:0002553), deep-set eyes (HP:0000490), high nasal bridge (HP:0000426), no anteverted nares (-HP:0000463), exaggerated cupid’s bow (HP:0002263), coarse features (HP:0000280), macroglossia (HP:0000158), gingival hyperplasia (HP:0000212) 1 1 Jamie Zeegers
00225694 25558065-Fam10DG1670 PubMed: Alazami 2015, Journal: Alazami 2015 4-generation family, 6 affected (F, 5M), unaffected heterozygous carrier parents/relatives F;M yes Saudi Arabia - - - - - ? see paper; …, global developmental delay, epilepsy, dysmorphism, hypotonia, and VSD 1 6 Johan den Dunnen
00276034 - - - F - - - - - - - ? Intellectual disability, mild (HP:0001256); Behavioral abnormality (HP:0000708); Short attention span (HP:0000736) 1 1 IMGAG
00288216 Pat26 PubMed: Lee 2019 - - - United States - - - - - ? short stature, macrocephaly, failure to thrive, craniosynostosis, broad nasal tip, high anterior hairline, depressed nasal bridge, torticollis, plagiocephaly, epicanthus, highly arched eyebrow, short chin, nystagmus, strabismus, hypertelorism, ptosis, esotropia, prominent fingertip pads, seborrheic dermatitis, hypotonia, delayed skeletal maturation, developmental delay, absent speech, seizures, communicating hydrocephalus, leukoencephalopathy, gait disturbance, inappropriate behavior, hyper oral fixation, ventriculomegaly, periventricular leukomalacia, hoarse voice, feeding difficulties, abdominal distention 2 1 Johan den Dunnen
00293511 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00306775 - - - F - - - - - - - ? Global developmental delay (HP:0001263) 1 1 IMGAG
00361670 10DG1670 PubMed: Anazi 2017 familial M yes Saudi Arabia - - - - - ID syndromic; global developmental delay, seizures, dysmorphism, hypotonia, VSD 1 1 Johan den Dunnen
00363892 - - - M - - - - - - - ? Strabismus (HP:0000486); Seizure (HP:0001250); Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263); Severe global developmental delay (HP:0011344) 1 1 IMGAG
00454830 Pat4 PubMed: Dekker 2023 - F no Netherlands - - - - - NDD see paper; ..., hypotonia, areflexia, encephalopathy, epilepsy; MRI brain hypoplastic corpus callosum, progressive hypomyelination 1 1 Johan den Dunnen
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