All individuals with variants in gene CAMTA1

27 entries on 1 page. Showing entries 1 - 27.
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00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 4 1 Yu Sun
00050388 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? dry skin, hypermetropia, esotropia, abnormality of the 5th finger, abnormality of the nervous system, abnormality of the oral cavity, cognitive impairment, ataxia 1 1 Johan den Dunnen
00050487 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? global developmental delay, microcephaly, seizures 1 1 Johan den Dunnen
00226096 - - - M - - - - - - - CANPMR - 1 1 Maartje Pennings
00226097 - - - F no - - - - - - CANPMR - 1 1 Maartje Pennings
00226098 - - - M no - - - - - - - - 1 1 Maartje Pennings
00226099 - - - F no - - - - - - CANPMR - 1 1 Maartje Pennings
00269422 Family1 PubMed: Shinawi 2014, Journal: Shinawi 2014 2-generation family, 1 affected and carrier mother M - United States white - - - - ataxia see paper; ..., DD, poor oral motor skills, short stature 1 1 Maartje Pennings
00269423 Family2 PubMed: Shinawi 2014, Journal: Shinawi 2014 2-generation family, 1 affected M ? United States white - - - - ataxia see paper; ..., epilepsy,DD/ID, ADHD, aggressive behavioral tendencies 1 1 Maartje Pennings
00269424 Fam1PatIII6 PubMed: Thevenon 2012, Journal: Thevenon 2012 3-generation family, 9 affected (5F, 4M) F ? France - - - - - ataxia term gestation 38m; no intrauterine growth retardation; no neonatal hypotonia; sit-9m; walk-18m; first words 48m; normal growth; dysmorphism; ataxic gait; mild dysmetry; instability; dysarthria/abnormal pronunciation; scale assessment and rating ataxia 9/56; normal nerve sensitivity; normal tendon reflexes; no pyramidal symptoms; no tremor; no nystagmus; no Romberg sign; no convulsions; strabismus; IQ 58, verbal intellectual quotient 52, performance intellectual quotient 57; special needs for scholarship/job; stereotypies, aggressive behaviour 1 9 Maartje Pennings
00269425 Fam2PatI1 PubMed: Thevenon 2012, Journal: Thevenon 2012 3-generation family, 5 affected (2F, 3M) F - France - - - - - ataxia delayed walking; first words; normal growth; dysmorphism; ataxic gait; mild dysmetry; instability; no dysarthria/abnormal pronunciation; scale assessment and rating ataxia 6/56; normal nerve sensitivity; normal tendon reflexes; no pyramidal symptoms; no tremor; no nystagmus; no Romberg sign; no convulsions; no strabismus; IQ 54, verbal intellectual quotient 52, performance intellectual quotient 60; not working; no behavioural troubles; 1 5 Maartje Pennings
00269430 Fam3Pat PubMed: Thevenon 2012, Journal: Thevenon 2012 2-generation family, 1 affected, unaffected non-carrier parents F - France - - - - - ataxia intrauterine growth retardation; neonatal hypotonia; sit-9m; walk-21m; delayed speech; normal growth; dysmorphism; ataxic gait; dysmetry; instability; dysarthria/abnormal pronunciation; scale assessment and rating ataxia 9/56; normal nerve sensitivity; normal tendon reflexes; no pyramidal symptoms; no tremor; no nystagmus; no Romberg sign; no convulsions; no strabismus; dissociation between verbal and non-verbal skills; special needs for scholarship/job; no behavioural troubles; MRI brain normal 1 1 Maartje Pennings
00269479 Fam1PatIII7 PubMed: Thevenon 2012, Journal: Thevenon 2012 - F - France - - - - - ataxia term gestation 40m; no intrauterine growth retardation; no neonatal hypotonia; sit-11m; walk-24m; no speech; normal growth; dysmorphism; no ataxic gait; no dysmetry; instability; scale assessment and rating ataxia 9/56; normal nerve sensitivity; normal tendon reflexes; no pyramidal symptoms; no tremor; no nystagmus; no Romberg sign; no convulsions; no strabismus; IQ 67, verbal intellectual quotient 78, performance intellectual quotient 61; special needs for scholarship/job; no behavioural troubles; 1 1 Johan den Dunnen
00269480 Fam1PatIII8 PubMed: Thevenon 2012, Journal: Thevenon 2012 - M - France - - - - - ataxia term gestation 39m; no intrauterine growth retardation; neonatal hypotonia; sit-10m; walk-20m (with assistance); no speech; normal growth; dysmorphism; ataxic gait; dysmetry; instability; scale assessment and rating ataxia 9/56; normal nerve sensitivity; normal tendon reflexes; no pyramidal symptoms; no tremor; no nystagmus; no Romberg sign; 2 febrile crisis; no strabismus; no behavioural troubles; 1 1 Johan den Dunnen
00269481 Fam1PatII6 PubMed: Thevenon 2012, Journal: Thevenon 2012 - F - France - - - - - ataxia first words; normal growth; facial dysmorphism; no ataxic gait; no dysmetry; mild instability; dysarthria/abnormal pronunciation; scale assessment and rating ataxia 6/56; normal nerve sensitivity; normal tendon reflexes; no pyramidal symptoms; no tremor; no nystagmus; no Romberg sign; no convulsions; no strabismus; IQ 58, verbal intellectual quotient 59, performance intellectual quotient 58; job reserved for disabled; no behavioural troubles; MRI brain pathological 1 1 Johan den Dunnen
00269482 Fam1PatII4 PubMed: Thevenon 2012, Journal: Thevenon 2012 - F - France - - - - - ataxia no intrauterine growth retardation; first words; normal growth; dysmorphism; no ataxic gait; no dysmetry; mild instability; dysarthria/abnormal pronunciation; scale assessment and rating ataxia 6/56; normal nerve sensitivity; normal tendon reflexes; no pyramidal symptoms; no tremor; no nystagmus; no Romberg sign; no convulsions; no strabismus; IQ 65, verbal intellectual quotient 66, performance intellectual quotient 68; not working; no behavioural troubles; MRI brain pathological 1 1 Johan den Dunnen
00269483 Fam1PatIII3 PubMed: Thevenon 2012, Journal: Thevenon 2012 - M - France - - - - - ataxia term gestation at term; no intrauterine growth retardation; no neonatal hypotonia; sit-10m; walk-18m; delayed speech; normal growth; dysmorphism; ataxic gait; mild dysmetry; mild instability; no dysarthria/abnormal pronunciation; scale assessment and rating ataxia 8/56; normal nerve sensitivity; normal tendon reflexes; no pyramidal symptoms; no tremor; no nystagmus; no Romberg sign; no convulsions; no strabismus; IQ 51 ; job reserved for disabled; solitary behaviour; 1 1 Johan den Dunnen
00269484 Fam1PatIII4 PubMed: Thevenon 2012, Journal: Thevenon 2012 - M - France - - - - - ataxia term gestation 36+5m; no intrauterine growth retardation; no neonatal hypotonia; walk-22m; delayed speech; normal growth; dysmorphism; no ataxic gait; no dysmetry; mild instability; dysarthria/abnormal pronunciation; scale assessment and rating ataxia 4/56; normal nerve sensitivity; normal tendon reflexes; no pyramidal symptoms; no tremor; no nystagmus; no Romberg sign; no convulsions; no strabismus; IQ 61, verbal intellectual quotient 76, performance intellectual quotient 65; special needs for scholarship/job; no behavioural troubles; MRI brain abnormal 1 1 Johan den Dunnen
00269485 Fam2PatII1 PubMed: Thevenon 2012, Journal: Thevenon 2012 - M - France - - - - - ataxia term gestation 38m; no intrauterine growth retardation; no neonatal hypotonia; walk-24m; first words36m; macrocephaly; dysmorphism; ataxic gait; mild dysmetry; instability; no dysarthria/abnormal pronunciation; scale assessment and rating ataxia 9/56; normal nerve sensitivity; polykinetic tendon reflexes; pyramidal symptoms; no tremor; no nystagmus; no Romberg sign; no convulsions; no strabismus; IQ 40, verbal intellectual quotient 50, performance intellectual quotient 50; special needs for scholarship/job; autism spectrum disorder, aggressiveness; 1 1 Johan den Dunnen
00269486 Fam2PatII2 PubMed: Thevenon 2012, Journal: Thevenon 2012 - F - France - - - - - ataxia term gestation 38m; no intrauterine growth retardation; neonatal hypotonia; walk-18m; first words36m; normal growth; dysmorphism; no ataxic gait; no dysmetry; mild instability; no dysarthria/abnormal pronunciation; scale assessment and rating ataxia 8/56; normal nerve sensitivity; normal tendon reflexes; no pyramidal symptoms; no tremor; no nystagmus; no Romberg sign; no convulsions; no strabismus; IQ 53, verbal intellectual quotient 55, performance intellectual quotient 56; special needs for scholarship/job; no behavioural troubles; 1 1 Johan den Dunnen
00269494 Pat3 PubMed: Mikhail 2011, Journal: Mikhail 2011 - M - - - - - - - ? see paper; ..., developmental delay, intellectual disability, attention deficit hyperactivity disorder, developmental pervasive disorder, no seizures, velopharyngeal insufficiency, speech problems, abnormal ataxic gait, no dysmorphic features 1 1 Johan den Dunnen
00334922 PME17 PubMed: Courage 2021, Journal: Courage 2021 family, 2 affected (F, M) F no Italy - - - - - ataxia Father-daughter pair. Daughter age of onset 18 years with myolonus; no other seizure types. Father with adult onset rare TCS and mild myoclonus. Both on a backround of normal development, with no cognitive impairment or ataxia. 1 2 Carolina Courage
00334925 PME18 PubMed: Courage 2021, Journal: Courage 2021 relative of PME17 M no Italy - - - - - ataxia see father 1 1 Carolina Courage
00377052 129512 - - F no Germany - - - - - CANPMR Hypotonia, Global developmental delay, Gait disturbance, Myopathic facies, Waddling gait, Steatorrhea, Fat malabsorption, Abnormal muscle tone, Decreased facial expression, Neurodevelopmental delay 1 1 Andreas Laner
00377053 148611 - - F ? Turkey - - - - - CANPMR Abnormality of the forehead, High forehead, Delayed speech and language development, Intellectual disability,Motor delay, Language impairment, Muscular dystrophy, Abnormality of higher mental function, Abnormal skeletal muscle morphology, Neurodevelopmental delay, Neurodevelopmental abnormality 1 1 Andreas Laner
00427990 A070 PubMed: Bournazos 2022 family, 1 affected - - Australia - - - - - ? - 1 1 Johan den Dunnen
00455867 Pat107 PubMed: Salinas 2020 patient M - - - - - - - ? - 1 1 Johan den Dunnen
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