Disease #00004 (KTZS (Kohlschutter-Tonz syndrome), OMIM:226750)

Official abbreviation KTZS
Name Kohlschutter-Tonz syndrome
OMIM ID 226750
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 43
Phenotype entries for this disease 43
Associated with 1 gene ROGDI
Associated tissues -
Disease features -
Remarks -
Date created 2012-05-23 08:55:16 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

43 entries on 1 page. Showing entries 1 - 43.
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00001503 Pat2 PubMed: Santen 2013 - M - - - - - - - CAAHD, CSS, EPM1A, IVA, JBS, JBTS1, JBTS13, KTZS, LCCS1, MCLMR, MDDGC5;LGMDR9;LGMD2I, PSORS, USH3B brith a term, weight SD 0.5; inguinal hernia bilateral, 3 hypomelanitic maculae.; no hypotonia; birth feeding problems; eczema (HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); delayed growth (HP:00001510); moderate speech delay (HP:0000750); moderate intellectual disability; normal scalp hair (-HP:0100037); normal eyebrow (-HP:0000534); normal eylashes (-HP:0000499); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); abnormal lacrimal duct (HP:0011481); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), no anteverted nares (-HP:0000463); short philtrum (HP:0000322); wide mouth (HP:0000154); cleft palate (HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); pectus excavatum (HP:0000767); no dislocated elbows (-HP:0003042); brachydactyly (HP:000156); small nails 5th only;; ;; inguinal hernia; ventricular septal defect; no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); inguinal hernia (HP:0000023); ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1 ARID1B, SMARCA2, SMARCA4, SMARCB1 15 1 Gijs Santen
00001656 - PubMed: Schossig 2012 sibling: Fam. A-IV:3, two unaffected siblings F yes - Africa, Northern - - - - KTZS developmental delay since birth, pregnancy: gestational diabetes and uneventful birth, walking without support at age 2.2 years; normal at age 9y; MRI-brain slight atrophy of cerebellar vermis; speech some simple words, deterioration of social interaction after onset of seizures.; 14m-eruption primary teeth, lusterless, rapid discoloration after eruption ROGDI ROGDI 1 1 Human Genetics Medical University Innsbruck
00001657 - PubMed: Schossig 2012 sibling: Fam. A-IV:4, two unaffected siblings M yes - Africa, Northern - - - - KTZS initial development normal, pregnancy: gestational diabetes, birth: cesarean section (breech presentation), newborn period uneventful, sit and walk with support at age 18 months and 4.5 years; 12y mild microcephaly; MRI-brain temporal delayed myelination; no expressive language, loss of visual fixation after onset of seizures; 13m-eruption of primary teeth, brownish discoloration from the beginning, small teeth, ROGDI ROGDI 1 1 Human Genetics Medical University Innsbruck
00001658 - PubMed: Schossig 2012 no known consanguinity of parents, unaffected brother M no - East Tyrol - - - - KTZS initial development normal, uneventful pregnancy, birth, and newborn period, sit and walk without support at age 9-10 months and 30 months; normal at age 18y, MRI-brain atrophy, hypoplasia of cerebellar vermis; feeds himself, fine motor problems; talks in two-word sentences, friendly behaviour; primary and secondary teeth: brownish discoloration, rough surface ROGDI ROGDI 1 1 Human Genetics Medical University Innsbruck
00001659 - PubMed: Schossig 2012 parents distantly related, unaffected sibling F yes Switzerland - - - - - KTZS initial development normal, uneventful pregnancy, birth, and newborn period, walking without support at age 2 years; normal at age 9y; MRI brain normal; feeds herself, fine motor problems; talks in simple sentences, friendly behaviour; primary and secondary teeth: yellowish discoloration, rough surface ROGDI ROGDI 2 1 Human Genetics Medical University Innsbruck
00001660 - PubMed: Mory 2012 no known consanguinity of parents, affected siblings: Fam.AM 1-II:6 and 1-II:7, 5 unaffected siblings F no Israel Northern, Druze - - - - KTZS uneventful pregnancy, birth, and newborn period, severe intellectual impairment; MRI-brain dilation of cerebellar sulci and third and lateral ventricles; ambulant; no expressive language; amelogenesis imperfecta ROGDI ROGDI 1 1 Division of Human Genetics, Innsbruck
00001661 - PubMed: Mory 2012 no known consanguinity of parents, affected siblings: Fam.AM 1-II:1 and 1-II:7, 5 unaffected siblings F no Israel Northern, Druze - - - - KTZS uneventful pregnancy, birth, and newborn period, profound intellectual impairment; MRI-brain dilation of cerebellar sulci and third and lateral ventricles; not ambulant; no expressive language; amelogenesis imperfecta ROGDI ROGDI 1 1 Division of Human Genetics, Innsbruck
00001662 - PubMed: Mory 2012 no known consanguinity of parents, affected siblings: Fam.AM 1-II:1 and 1-II:6, 5 unaffected siblings M no Israel Northern, Druze - - - - KTZS uneventful pregnancy, birth, and newborn period, severe intellectual impairment; MRI-brain dilation of cerebellar sulci and third and lateral ventricles; ambulant; no expressive language; amelogenesis imperfecta ROGDI ROGDI 1 1 Division of Human Genetics, Innsbruck
00001663 - PubMed: Mory 2012 siblings: Fam.AM 2-IV:2 and Fam.AM 2-IV:4, three unaffected siblings F yes Israel Northern, Druze - - - - KTZS uneventful pregnancy, birth, and newborn period, severe intellectual impairment; ambulant; no expressive language; amelogenesis imperfecta ROGDI ROGDI 1 1 Division of Human Genetics, Innsbruck
00001664 - PubMed: Mory 2012 siblings: Fam.AM 2-IV:1 and Fam.AM 2-IV:4, three unaffected siblings M yes Israel Northern, Druze - - - - KTZS uneventful pregnancy and birth; developmental delay since birth: newborn period: muscular hypotonia, poor sucking, severe intellectual impairment; MRI brain normal; ambulant; no expressive language; amelogenesis imperfecta ROGDI ROGDI 1 1 Division of Human Genetics, Innsbruck
00001665 - PubMed: Mory 2012 siblings: Fam.AM 2-IV:1 and Fam.AM 2-IV:2, three unaffected siblings M yes Israel Northern, Druze - - - - KTZS initial development normal until seizure onset, uneventful pregnancy, birth, and newborn period, moderate intellectual impairment; ambulant; mumbling speech; amelogenesis imperfecta ROGDI ROGDI 1 1 Division of Human Genetics, Innsbruck
00001666 - PubMed: Mory 2012 sibling: Fam.AM 3-V:3, one unaffected sibling, related to Fam.AM 4 and Fam.AM 5 M yes Israel Northern, Druze - - - - KTZS uneventful pregnancy and newborn period, birth by cesarean section, severe intellectual impairment; not ambulant; no expressive language; amelogenesis imperfecta ROGDI ROGDI 1 1 Division of Human Genetics, Innsbruck
00001667 - PubMed: Mory 2012 sibling: Fam.AM 3-V:1, one unaffected sibling, related to Fam.AM 4 and Fam.AM 5 F yes Israel Northern, Druze - - - - KTZS uneventful pregnancy and newborn period, birth by cesarean section, moderate intellectual impairment; ambulant; mumbling speech; amelogenesis imperfecta ROGDI ROGDI 1 1 Division of Human Genetics, Innsbruck
00001668 - PubMed: Mory 2012 siblings: Fam.AM 4-V:5, 4-V:6, 4-V:7, 4-V:8, two unaffected siblings, related to Fam.AM 3 and Fam.AM 5 F no Israel Northern, Druze 02y - - - KTZS uneventful pregnancy and birth; vegetative and seizures since birth, failure to thrive; microcephaly ROGDI ROGDI 1 1 Division of Human Genetics, Innsbruck
00001669 - PubMed: Mory 2012 siblings: Fam.AM 4-V:5, 4-V:6, 4-V:7, 4-V:8, two unaffected siblings, related to Fam.AM 3 and Fam.AM 5 M no Israel Northern, Druze - - - - KTZS uneventful pregnancy and birth, impaired psychomotor development from 6 months of age, severe intellectual impairment; MRI-brain dilation of cerebellar sulci and third and lateral ventricles; ambulant; no expressive language; amelogenesis imperfecta ROGDI ROGDI 1 1 Division of Human Genetics, Innsbruck
00001670 - PubMed: Mory 2012 siblings: Fam.AM 4-V:5, 4-V:6, 4-V:7, 4-V:8, two unaffected siblings, related to Fam.AM 3 and Fam.AM 5 F no Israel Northern, Druze - - - - KTZS uneventful pregnancy and birth, impaired psychomotor development from the first months of life, profound intellectual impairment; not ambulant; no expressive language; amelogenesis imperfecta ROGDI ROGDI 1 1 Division of Human Genetics, Innsbruck
00001671 - PubMed: Mory 2012 siblings: Fam.AM 4-V:5, 4-V:6, 4-V:7, 4-V:8, two unaffected siblings, related to Fam.AM 3 and Fam.AM 5 F no Israel Northern, Druze - - - - KTZS uneventful pregnancy, birth, and newborn period, moderate intellectual impairment; ambulant; mumbling speech, utters a few words; amelogenesis imperfecta ROGDI ROGDI 1 1 Division of Human Genetics, Innsbruck
00001672 - PubMed: Mory 2012 siblings: Fam.AM 4-V:5, 4-V:6, 4-V:7, 4-V:8, two unaffected siblings, related to Fam.AM 3 and Fam.AM 5 M no Israel Northern, Druze - - - - KTZS uneventful pregnancy, birth, and newborn period, severe intellectual impairment, hyperactivity; MRI brain normal; ambulant; no expressive language; amelogenesis imperfecta ROGDI ROGDI 1 1 Division of Human Genetics, Innsbruck
00001673 - PubMed: Mory 2012 one unaffected sibling, related to Fam.AM 3 and Fam.AM 4 M yes Israel Northern, Druze - - - - KTZS uneventful pregnancy, birth, and newborn period, severe intellectual impairment; MRI brain normal; ambulant; no expressive language; amelogenesis imperfecta ROGDI ROGDI 1 1 Division of Human Genetics, Innsbruck
00001674 - PubMed: Tucci 2012 - M no Germany - - - - - KTZS uneventful pregnancy, birth, and newborn period, normal psychomotor development until onset of seizures, severe psychomotor delay after seizure onset; 2.5y small stature (-2,3 SD), microcephaly; admin; yellow teeth ROGDI ROGDI 1 1 Division of Human Genetics, Innsbruck
00001675 - PubMed: Tucci 2012, PubMed: Christodoulou 1988 parents not knowingly related, two living affected siblings (Tucci Fam A-II:3, -II:4), one unaffected sibling M no Italy Sicily - - - - KTZS normal development until seizure onset,psychomotor regression after age 18 months, severe intellectual disability; admin;; amelogenesis imperfecta, hypoplastic rough teeth, yellow teeth ROGDI ROGDI 1 1 Division of Human Genetics, Innsbruck
00001676 - PubMed: Tucci 2012, PubMed: Christodoulou 1988 parents not knowingly related, two living affected siblings (Tucci Fam A-II:2, -II:3), one unaffected sibling M no Italy Sicily - - - - KTZS normal development until seizure onset, psychomotor regression after age 7 months, severe intellectual disability; admin;; amelogenesis imperfecta, hypoplastic rough teeth, yellow teeth ROGDI ROGDI 1 1 Division of Human Genetics, Innsbruck
00001677 - PubMed: Tucci 2012, PubMed: Christodoulou 1988 parents not knowingly related, two living affected siblings (Tucci Fam A-II:2, -II:4), one unaffected sibling F no Italy Sicily - - - - KTZS normal development until seizure onset, psychomotor regression after age 22 months, severe intellectual disability; admin;; amelogenesis imperfecta, hypoplastic rough teeth, yellow teeth ROGDI ROGDI 1 1 Division of Human Genetics, Innsbruck
00001678 - PubMed: Tucci 2012, PubMed: Schossig 2012 two healthy siblings M no Germany - - - - - KTZS uneventful pregnancy, birth, and newborn period, normal psychomotor development until onset of seizures, stagnation and thereafter slow progression of psychomotor development after seizure onset; 8y body weight and length significantly below 3rd percentile, head circumference: 25th percentile; MRI-brain 9y mild atrophy of the cerebellar vermis; lost ability to walk after development of spasticity, no conscious grasping; no active language; brownish discoloration of teeth, amelogenesis imperfecta ROGDI ROGDI 2 1 Division of Human Genetics, Innsbruck
00001679 - PubMed: Tucci 2012, PubMed: Petermöller 1993 one affected sibling (Tucci Fam D-II:2), one unaffected sibling M no Germany - - - - - KTZS uneventful pregnancy, birth, and newborn period, delayed psychomotor development from the beginning, severe psychomotor disability; MRI-brain slight ventricular enlargement; no active language; yellow teeth, prone to crumble ROGDI ROGDI 1 1 Division of Human Genetics, Innsbruck
00001680 - PubMed: Tucci 2012, PubMed: Petermöller 1993 one affected sibling (Tucci Fam D-II:1), one unaffected sibling F no Germany - - - - - KTZS uneventful pregnancy, birth, and newborn period, normal psychomotor development until onset of seizures, psychomotor regression after age 13 months; admin; MRI brain normal; total loss of speech and social contact; yellow teeth, prone to crumble ROGDI ROGDI 2 1 Division of Human Genetics, Innsbruck
00001681 - PubMed: Tucci 2012, PubMed: Musumeci 1994 one affected sibling (Tucci FamC-II:2) F yes Italy Sicily - - - - KTZS uneventful pregnancy, birth, and newborn period, delayed psychomotor development since age 2 months, severe psychomotor disability; broad thumbs and toes; MRI-brain hypoplasia of cerebellar vermis, asymmetric dilatation of lateral ventricles; no active language; yellow teeth, hypoplastic enamel on dental radiographs ROGDI ROGDI 1 1 Division of Human Genetics, Innsbruck
00001682 - PubMed: Tucci 2012, PubMed: Musumeci 1994 one affected sibling (Tucci FamC-II:1) M yes Italy Sicily - - - - KTZS uneventful pregnancy, birth, and newborn period, delayed psychomotor development from the beginning, slow development after seizure onset, severe psychomotor disability; 4.5y microcephaly; broad thumbs and toes; MRI-brain enlargement of lateral ventricles; no active language; yellow teeth ROGDI ROGDI 1 1 Division of Human Genetics, Innsbruck
00047286 - - sibling of IBK 12D2119 F yes Turkey - - - - - KTZS intellectual disability, motor developmental delay, seizures starting at age 7 months, yellow teeth; yellow-brown teeth, unremarkable prenatal history, normal birth parameters, motor and cognitive developmental delay, normal head circumference, strabism, seizures; MRI brain cerebellar atrophy (HP:0001272); amelogenesis imperfecta, yellow-brown teeth ROGDI ROGDI 1 1 Human Genetics Medical University Innsbruck
00047287 - PubMed: Schossig 2012 no siblings F no Austria East Tyrol - - - - KTZS seizures; sitting; no speech (HP:0001344); amelogenesis imperfecta, yellow teeth, soft enamel & dentin, prone to crumble, sensitivity, late eruption ROGDI ROGDI 1 1 Human Genetics Medical University Innsbruck
00047288 - - - M ? - - - - - - KTZS - ROGDI ROGDI 1 1 Human Genetics Medical University Innsbruck
00047289 - PubMed: Tucci 2012 - F no France - - - - - KTZS schizophrenia; amlogenesis imperfecta, yellow-brownish teeth, normal sized ROGDI ROGDI 2 1 Human Genetics Medical University Innsbruck
00059207 FamAPatII3 PubMed: Schossig 2017 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F - - - - - - - KTZS seizure onset: 7 month; Neurological findings: infantile hypotonia, later ataxic dystonic gait, Horner syndrome; Intellectual disability, severe (HP:0010864); MRI brain normal; teeth smooth surface, worn secondary premolars/molars, spaced wide, small, cylindric, yellow-brown SLC13A5 SLC13A5 1 2 Elisabeth Maurer
00059208 FamAPatII1 PubMed: Schossig 2017 - M - - - - - - - KTZS seizure onset: 1st day; Neurological findings: infantile hypotonia, later spasticity, ataxia, dystonic gait, strabismus ; Intellectual disability, severe (HP:0010864); MRI brain normal; teeth small, cylindric, yellow-brown teeth, interdental spaces, smooth surface, worn secondary premolars/molars, cylindric, yellow-brown SLC13A5 SLC13A5 1 1 Elisabeth Maurer
00059209 FamBPatII1 PubMed: Schossig 2017 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no - - - - - - KTZS seizure onset: 1st day; Neurological findings: spastic diplegia, pyramidal signs of the legs, cerebellar ataxia, strabismus; Intellectual disability, severe (HP:0010864); Dental radiographs: no enamel visible on primary and secondary teeth; MRI brain normal; hypoplastic enamel of prim/secondary teeth, sharp-thin lower permanent incisors, worn primary molars SLC13A5 SLC13A5 2 2 Elisabeth Maurer
00059210 FamBPatII2 PubMed: Schossig 2017 - F no - - - - - - KTZS seizure onset: 2 month; Neurological findings:pyramidal signs of the legs, cerebellar ataxia; Intellectual disability, severe (HP:0010864); primary molars lack enamel and have a yellow surface, opaque enamel of incisors, smooth surface SLC13A5 SLC13A5 2 1 Elisabeth Maurer
00059211 FamCPatII1 PubMed: Schossig 2017 2-generation family, affected borther/sister, unaffected heterozygous carrier parents M - - - - - - - KTZS seizure onset: 1st day; Neurological findings:hypotonia, ataxia; Intellectual disability, severe (HP:0010864); Dental radiographs: no enamel visible; MRI brain normal; teeth cylindrical shape, sharp and thin incisal edges with brown discoloration, smooth/hard tooth surface, cylindric, yellow-brown SLC13A5 SLC13A5 2 2 Elisabeth Maurer
00059212 FamDPatII2 PubMed: Schossig 2017 2-generation family, affected sisters/brother, unaffected heterozygous carrier parents F - - - - - - - KTZS seizure onset: 1st day; Neurological findings:coordination deficits; Intellectual disability, moderate (HP:0002342); MRI brain normal; teeth pointed tips, worn premolars/molars, smooth hard surfaces, slight yellow, cylindric, spaced wide SLC13A5 SLC13A5 2 3 Elisabeth Maurer
00059213 FamDPatII4 PubMed: Schossig 2017 - F - - - - - - - KTZS seizure onset: 1st day; Neurological findings:coordination deficits; Intellectual disability, moderate (HP:0002342); MRI brain normal; teeth pointed tips, worn premolars/molars, smooth hard surfaces, slight yellow, spaced wide, cylindric, yellow-brown SLC13A5 SLC13A5 2 1 Elisabeth Maurer
00059214 FamDPatII3 PubMed: Schossig 2017 - M - - - - - - - KTZS seizure onset: 1st day; Neurological findings: ataxia; Intellectual disability, severe (HP:0010864); Dental radiographs: no enamel visible; MRI brain normal; mild-moderate speech delay (HP:0000750); teeth pointed tips, worn premolars/molars, smooth hard surfaces, slight yellow, cylindric, spaced wide SLC13A5 SLC13A5 2 1 Elisabeth Maurer
00059216 FamCPatII2 PubMed: Schossig 2017 - F - - - - - - - KTZS seizure onset: 1,5 month; Neurological findings:hypotonia, ataxia; Intellectual disability, severe (HP:0010864); Dental radiographs: no enamel visible; delay in tooth eruption; MRI brain normal; small secondary incisors-cylindric, sharp and thin incisal edges, smooth hard surface, cylindric, yellow-brown SLC13A5 SLC13A5 2 1 Elisabeth Maurer
00059217 FamEPatII2 PubMed: Schossig 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - KTZS seizure onset: 1st day, neurological findings: marked hypotonia, marked developmental delay; MRI-brain atrophy of left hemisphere, bilateral changes in globus pallidus, probably postictal; teeth opaque enamel of incisors, smooth surface, worn primary molars, cylindric shape, spaced wide SLC13A5 SLC13A5 1 1 Elisabeth Maurer
00462267 FamPatIII7/8/10;Pat6/7 PubMed: Elalaoui 2016, PubMed: Mameli 2020 3-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents F;M yes Morocco - - - - - KTZS see paper; ..., learning disability, seizures and amelogenesis imperfecta - FAM20C 1 3 Johan den Dunnen
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