All individuals with variants in gene PTCHD1

40 entries on 1 page. Showing entries 1 - 40.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 2 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 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) 3 1 Yu Sun
00024221 - PubMed: Wibley 2010 3-generation family, 3 affecteds, unaffected carrier females M - - - - 0 - - MRX;IDX - 1 3 Johan den Dunnen
00029005 - PubMed: Torrico 2015 240 patients - - Spain white - 0 - - autism - 4 240 Bru Cormand
00029006 - PubMed: Torrico 2015 - - - Spain white - 0 - - ID - 1 1 Bru Cormand
00050451 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - ? blue sclerae, deeply set eye, wide mouth, long philtrum, global developmental delay 1 1 Johan den Dunnen
00050672 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - ? global developmental delay, abnormal facial shape, sleep disturbance, aggressive behavior, constipation, eczema, drooling, gait disturbance 1 1 Johan den Dunnen
00074629 25131214-FamAPat1 PubMed: Chaudhry 2015, Journal: Chaudhry 2015 2-generation family, 2 affected brothers M - France white >12y08m 0 - - autism, ID long face (HP:0000276), short columella (HP:0002000), long philtrum (HP:0000343), thin upper lip vermilion (HP:0000219), wide mouth (HP:0000154), micrognathia (HP:0000347), hypotonic face (HP:0000271); intellectual disability (HP:0001249); global developmental delay (HP:0001263) 1 2 Pieter Klap
00095046 - PubMed: Chaudhry 2015, Journal: Chaudhry 2015 PatA2 M - France - >33y 0 - - autism no dysmorphic features, no growth abnormalities, unsure about developmental/cognitive functioning, no neurological features 1 1 Johan den Dunnen
00095047 - PubMed: Chaudhry 2015, Journal: Chaudhry 2015 2-generation family, 2 affected brothers, PatO1 M - Germany - - 0 - - ? no dysmorphic features, no growth abnormalities, global developmental delay, mild intellectual disability, mood disorder, Tourette syndrome, hyperkinetic disorder, anxiety disorder, sleep disorder, hypotonia 1 2 Johan den Dunnen
00095048 - PubMed: Chaudhry 2015, Journal: Chaudhry 2015 PatO2 M - Germany - - 0 - - ? long philtrum, low set posteriorly rotated ears, no growth abnormalities, global developmental delay, aggressive outbursts, hyperactivity, vocal and motor tics, sleep disorder, shy personality, avoids social contacts, no neurological features 1 1 Johan den Dunnen
00095049 - PubMed: Chaudhry 2015, Journal: Chaudhry 2015 - M - United Kingdom (Great Britain) white - 0 - - ? straight eyebrows, upslanted palpebral fissures, thin upper lip vermilion, relative microcephaly (HC 10th percentile), global developmental delay, sleep disorder, hypotonic face with drooling, generalized hypotonia, mild ataxia 1 1 Johan den Dunnen
00095050 - PubMed: Chaudhry 2015, Journal: Chaudhry 2015, PubMed: Filges 2011, Journal: Filges 2011 2-generation family, 2 affecteds M - Italy white - 0 - - ? see paper; … 1 2 Johan den Dunnen
00095051 - PubMed: Chaudhry 2015, Journal: Chaudhry 2015, PubMed: Filges 2011, Journal: Filges 2011 - M - Italy white - 0 - - ? see paper; … 1 1 Johan den Dunnen
00095052 - PubMed: Chaudhry 2015, Journal: Chaudhry 2015 2-generation family, 2 affecteds M - Netherlands white - 0 - - ? see paper; … 1 2 Johan den Dunnen
00095053 - PubMed: Chaudhry 2015, Journal: Chaudhry 2015 - M - Netherlands white - 0 - - ? see paper; … 1 1 Johan den Dunnen
00095054 - PubMed: Chaudhry 2015, Journal: Chaudhry 2015 - M - - - - 0 - - ? see paper; … 1 1 Johan den Dunnen
00095055 - PubMed: Chaudhry 2015, Journal: Chaudhry 2015 - M - United Kingdom (Great Britain) white - 0 - - ? see paper; … 1 1 Johan den Dunnen
00095056 - PubMed: Chaudhry 2015, Journal: Chaudhry 2015 2-generation family, 3 affecteds M - - white - 0 - - ? see paper; … 1 3 Johan den Dunnen
00095057 - PubMed: Chaudhry 2015, Journal: Chaudhry 2015 - M - - white - 0 - - ? see paper; … 1 1 Johan den Dunnen
00095058 - PubMed: Chaudhry 2015, Journal: Chaudhry 2015 - M - - white - 0 - - ? see paper; … 1 1 Johan den Dunnen
00095059 - PubMed: Chaudhry 2015, Journal: Chaudhry 2015 2-generation family, 2 affecteds M - - European, north, white - 0 - - ? see paper; … 1 2 Johan den Dunnen
00095060 - PubMed: Chaudhry 2015, Journal: Chaudhry 2015 - M - - European, north, white - 0 - - ? see paper; … 1 1 Johan den Dunnen
00095061 - PubMed: Chaudhry 2015, Journal: Chaudhry 2015 - M - United Kingdom (Great Britain) white - 0 - - ? see paper; … 1 1 Johan den Dunnen
00095062 - PubMed: Chaudhry 2015, Journal: Chaudhry 2015 - M - - white - 0 - - ? see paper; … 1 1 Johan den Dunnen
00095063 - PubMed: Chaudhry 2015, Journal: Chaudhry 2015 - M - - Filipino, white - 0 - - ? see paper; … 1 1 Johan den Dunnen
00095064 - PubMed: Chaudhry 2015, Journal: Chaudhry 2015 - M - India Indian, east - 0 - - ? see paper; … 1 1 Johan den Dunnen
00095065 - PubMed: Chaudhry 2015, Journal: Chaudhry 2015 - M - - white - 0 - - ? see paper; … 1 1 Johan den Dunnen
00095066 - PubMed: Chaudhry 2015, Journal: Chaudhry 2015 - M - - Irish/aboriginal, white - 0 - - ? see paper; … 1 1 Johan den Dunnen
00095067 - PubMed: Chaudhry 2015, Journal: Chaudhry 2015 - M - Canada Irish?french, white - 0 - - ? see paper; … 1 1 Johan den Dunnen
00144427 - - - M - (Germany) - - 0 - - ? Global developmental delay (HP:0001263); Behavioral abnormality (HP:0000708) 1 1 IMGAG
00150182 26539891-FamBAB4918 PubMed: Karaca 2015 - - - - - - 0 family structure in paper - ? Frontal lissencephalic cortical dysplasia, seizures 1 2 Johan den Dunnen
00307763 UK10K_FINDWGA5410926 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - 0 - - ID - 1 1 Johan den Dunnen
00375233 181067 - - M ? ? (unknown) - - 0 - - AUTSX1 (+) Autism,(+) Autistic behavior,(+) Delayed speech and language development,(+) Global developmental delay,(+) Neurological speech impairment,(+) EEG abnormality,(+) Poor speech,(+) Expressive language delay,(+) Abnormality of higher mental function,(+) Abnormality of central nervous system electrophysiology,(+) Cognitive impairment 1 1 Andreas Laner
00376959 case/control PubMed: Torrico 2015 - - - - - - 0 - - ? - 1 6 Johan den Dunnen
00376960 case/control PubMed: Torrico 2015 - - - - - - 0 - - ? - 1 807 Johan den Dunnen
00376961 case/control PubMed: Torrico 2015 - - - - - - 0 - - ? - 1 76 Johan den Dunnen
00376962 case/control PubMed: Torrico 2015 - - - - - - 0 - - ? - 1 15 Johan den Dunnen
00376963 case/control PubMed: Torrico 2015 - - - - - - 0 - - ? - 1 6 Johan den Dunnen
00399156 FamD222 PubMed: Philips 2014 3-generation family, 3 affected (3M), unaffected heterozygous carrier mother M - Finland - - 0 - - ID see paper; ... 1 3 Johan den Dunnen
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