All individuals with variants in gene PUS7

9 entries on 1 page. Showing entries 1 - 9.
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00211173 30526862-FamPKMR215PatIV2 PubMed: de Brouwer 2018 2-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents F yes Pakistan - - - - - MR;ID height 140cm (<3.9SD), weight 37kg (-3.6SD), head circumference 50cm (-4.0 SD), moderate intellectual disability, no motor delay, speech delay, aggressive behaviour, no seizures, smooth philtrum, full lips (+/-), everted lower lip, hypodontia, no conical shaped teeth 1 4 Johan den Dunnen
00211174 30526862-FamPKMR215PatIV3 PubMed: de Brouwer 2018 brother PatIV3 M yes Pakistan - - - - - MR;ID height 137cm (-3.5SD), weight 29.5kg (-3.2SD), head circumference 49cm (-3.6SD), moderate intellectual disability, no motor delay, speech delay, aggressive behaviour, no seizures, smooth philtrum, full lips (+/-), everted lower lip, no hypodontia, no conical shaped teeth 1 1 Johan den Dunnen
00211175 30526862-FamPKMR215PatIV4 PubMed: de Brouwer 2018 brother PatIV4 M yes Pakistan - - - - - MR;ID moderate intellectual disability, no motor delay, speech delay, aggressive behaviour, no seizures 1 1 Johan den Dunnen
00211176 30526862-FamMR046PatIV1 PubMed: de Brouwer 2018 4-generation family, affected brothers, unaffected heterozygous carrier parents M yes Syria - - - - - MR;ID height 104cm (-4.0SD), head circumference 46.5cm (-4.5SD), moderate intellectual disability, motor delay, speech delay, aggressive behaviour, no seizures, smooth philtrum, no full lips, no everted lower lip, no hypodontia, no conical shaped teeth, hepatomegaly; MRI brain generalized atrophy, enlargement of ventricles 1 2 Johan den Dunnen
00211177 30526862-FamMR046PatIV2 PubMed: de Brouwer 2018 brother PatIV2 M yes Syria - - - - - MR;ID height 80cm (-2.2SD), head circumference 46cm (-2.5SD), moderate intellectual disability, motor delay, speech delay, no seizures, smooth philtrum, no full lips, no everted lower lip, no hypodontia, no conical shaped teeth 1 1 Johan den Dunnen
00211178 30526862-FamR14-22173 PubMed: de Brouwer 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Netherlands Moroccan - - - - MR;ID height 95.5cm (-2.2SD), weight 11.5kg (-3.0SD), head circumference 46.3cm (-2.5SD), intellectual disability, motor delay, speech delay, aggressive behaviour, no seizures, smooth philtrum, full lips, everted lower lip, hypodontia, conical shaped teeth; MRI brain normal 1 1 Johan den Dunnen
00318035 PKMR215 PubMed: Riazuddin 2017 - - yes Pakistan Siraiki - - - - ID Moderate ID with speech delay and aggressive behaviour. 1 1 Johan den Dunnen
00387788 M8600480 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents - yes - Zaboli - - - - ID syndromic intellectual disability, microcephaly (SD-7.5) 1 2 Johan den Dunnen
00412468 Pat17 PubMed: Velmans 2012 - M - United Kingdom (Great Britain) - - - - - NDD macrocephaly (infancy), OFC Z+1.8; no dolichocephaly; large forehead; no epicanthal folds; deep-set eyes; no prominent nasolabial folds; full cheeks; no small ears; no finger/toe clinodactyly; developmental motor delay; developmental speech delay; no developmental regression; intellectual disability, VIQ:71, PIQ:63; no autism spectrum disorder; EEG normal; no epilepsy; no febrile seizures; no muscular hypotonia; no ADHD; no stereotypical behavior; no self-injurious behavior; no aggressive behavior; sleep disturbances; no corpus callosum hypoplasia; no ventriculomegaly; no reduced brain volume; cerebral cysts; no delayed myelination; no constipation; no gastroesophageal reflux; no vomiting; everted lower lip, low-hanging columella, pervasive developmental disorder 1 1 Johan den Dunnen
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