Phenotypes for disease #00004 (KTZS (Kohlschutter-Tonz syndrome), OMIM:226750)

43 entries on 1 page. Showing entries 1 - 43.
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Age/Examination     
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0000000810 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 - - Familial - - - 09y - Human Genetics Medical University Innsbruck 00001656
0000000811 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, - - Familial - - - 12y - Human Genetics Medical University Innsbruck 00001657
0000000812 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 - - Familial - - - 18y - Human Genetics Medical University Innsbruck 00001658
0000000813 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 - - Familial - - - 09y - Human Genetics Medical University Innsbruck 00001659
0000000814 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 - - Familial - - - 6y - Division of Human Genetics, Innsbruck 00001660
0000000815 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 - - Familial - - - 24y - Division of Human Genetics, Innsbruck 00001661
0000000816 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 - - Familial - - - 16y - Division of Human Genetics, Innsbruck 00001662
0000000817 uneventful pregnancy, birth, and newborn period, severe intellectual impairment; ambulant; no expressive language; amelogenesis imperfecta - - Familial - - - 15y6m - Division of Human Genetics, Innsbruck 00001663
0000000818 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 - - Familial - - - 16y6m - Division of Human Genetics, Innsbruck 00001664
0000000819 initial development normal until seizure onset, uneventful pregnancy, birth, and newborn period, moderate intellectual impairment; ambulant; mumbling speech; amelogenesis imperfecta - - Familial - - - 13y6m - Division of Human Genetics, Innsbruck 00001665
0000000820 uneventful pregnancy and newborn period, birth by cesarean section, severe intellectual impairment; not ambulant; no expressive language; amelogenesis imperfecta - - Familial - - - 14y6m - Division of Human Genetics, Innsbruck 00001666
0000000821 uneventful pregnancy and newborn period, birth by cesarean section, moderate intellectual impairment; ambulant; mumbling speech; amelogenesis imperfecta - - Familial - - - 16y6m - Division of Human Genetics, Innsbruck 00001667
0000000822 uneventful pregnancy and birth; vegetative and seizures since birth, failure to thrive; microcephaly - - Familial - - - - - Division of Human Genetics, Innsbruck 00001668
0000000823 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 - - Familial - - - 16y6m - Division of Human Genetics, Innsbruck 00001669
0000000824 uneventful pregnancy and birth, impaired psychomotor development from the first months of life, profound intellectual impairment; not ambulant; no expressive language; amelogenesis imperfecta - - Familial - - - 19y6m - Division of Human Genetics, Innsbruck 00001670
0000000825 uneventful pregnancy, birth, and newborn period, moderate intellectual impairment; ambulant; mumbling speech, utters a few words; amelogenesis imperfecta - - Familial - - - 15y - Division of Human Genetics, Innsbruck 00001671
0000000826 uneventful pregnancy, birth, and newborn period, severe intellectual impairment, hyperactivity; MRI brain normal; ambulant; no expressive language; amelogenesis imperfecta - - Familial - - - 3y6m - Division of Human Genetics, Innsbruck 00001672
0000000827 uneventful pregnancy, birth, and newborn period, severe intellectual impairment; MRI brain normal; ambulant; no expressive language; amelogenesis imperfecta - - Familial - - - 14y6m - Division of Human Genetics, Innsbruck 00001673
0000000828 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 - - Familial - - - 2y6m - Division of Human Genetics, Innsbruck 00001674
0000000829 normal development until seizure onset,psychomotor regression after age 18 months, severe intellectual disability; admin;; amelogenesis imperfecta, hypoplastic rough teeth, yellow teeth - - Familial - - - - - Division of Human Genetics, Innsbruck 00001675
0000000830 normal development until seizure onset, psychomotor regression after age 7 months, severe intellectual disability; admin;; amelogenesis imperfecta, hypoplastic rough teeth, yellow teeth - - Familial - - - - - Division of Human Genetics, Innsbruck 00001676
0000000831 normal development until seizure onset, psychomotor regression after age 22 months, severe intellectual disability; admin;; amelogenesis imperfecta, hypoplastic rough teeth, yellow teeth - - Familial - - - - - Division of Human Genetics, Innsbruck 00001677
0000000832 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 - - Familial - - - 8y - Division of Human Genetics, Innsbruck 00001678
0000000833 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 - - Familial - - - - - Division of Human Genetics, Innsbruck 00001679
0000000834 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 - - Familial - - - - - Division of Human Genetics, Innsbruck 00001680
0000000835 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 - - Familial - - - - - Division of Human Genetics, Innsbruck 00001681
0000000836 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 - - Familial - - - 4y6m - Division of Human Genetics, Innsbruck 00001682
0000034648 intellectual disability, motor developmental delay, seizures starting at age 7 months, yellow teeth; yellow-brown teeth - - Familial, autosomal recessive - 00y07m - - - Human Genetics Medical University Innsbruck 00047286
0000034649 seizures; sitting; no speech (HP:0001344); amelogenesis imperfecta, yellow teeth, soft enamel & dentin, prone to crumble, sensitivity, late eruption - - Familial, autosomal recessive - 00y08m - 07y - Human Genetics Medical University Innsbruck 00047287
0000034650 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 - - Familial, autosomal recessive - 01y - 13y - Human Genetics Medical University Innsbruck 00047286
0000034651 - - - Familial, autosomal recessive - - - 07y - Human Genetics Medical University Innsbruck 00047288
0000034652 schizophrenia; amlogenesis imperfecta, yellow-brownish teeth, normal sized - - Familial, autosomal recessive - - - 25y - Human Genetics Medical University Innsbruck 00047289
0000045713 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 - - Familial, autosomal recessive - 00y07m - - - Elisabeth Maurer 00059207
0000045715 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 - - Familial, autosomal recessive - 00y00m01d - - - Elisabeth Maurer 00059208
0000045716 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 - - Familial, autosomal recessive - 00y00m01d - - - Elisabeth Maurer 00059209
0000045717 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 - - Familial, autosomal recessive - 00y02m - - - Elisabeth Maurer 00059210
0000045718 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 - - Familial, autosomal recessive - 00y01m - - - Elisabeth Maurer 00059211
0000045719 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 - - Familial, autosomal recessive - 00y00m01d - - - Elisabeth Maurer 00059212
0000045720 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 - - Familial, autosomal recessive - 00y00m01d - - - Elisabeth Maurer 00059213
0000045721 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 - - Familial, autosomal recessive - 00y00m01d - - - Elisabeth Maurer 00059214
0000045722 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 - - Familial, autosomal recessive - 00y02m - - - Elisabeth Maurer 00059216
0000045724 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 - - Familial, autosomal recessive - 00y00m01d - - - Elisabeth Maurer 00059217
0000349767 see paper; ..., learning disability, seizures and amelogenesis imperfecta Kohlschutter-Tonz syndrome RNS Familial, autosomal recessive - - - - - Johan den Dunnen 00462267
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