All individuals with variants in gene WAC

35 entries on 1 page. Showing entries 1 - 35.
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00054835 26757981-Pat1 PubMed: Lugtenberg 2016, Journal: Lugtenberg 2016 - F - - - - - - - ID Severe ID; Absence of speech; Motor delay; Sleep disturbances; automutilation; Epilepsy; Toe walking; normal vision; abnormal breathing pattern; neonatal feeding problems; hernia diafragmatica; pubertas tarda; nromal MRI; born after 42w of uncomplicated pregnancy; severe intellectual disability (HP:0010864); no speech (HP:0001344) 1 1 Lisenka Vissers
00054836 26757981-Pat2 PubMed: Lugtenberg 2016, Journal: Lugtenberg 2016 - M - - - - - - - ID Mild Id (IQ58); speech delay; motor delay; anxiety; sleep disturbances; autism; oral hypotonia; hypotonia; normal vision; abnormal breathing pattern; recurrent respiratory infection; asthma; broad first digit; laryngomalacy; hoarse voice; MRI/CT: normal; born at term after ventouse extraction after uncomplicated pregnancy; Normal birth weigth; mild intellectual disability (HP:0001256) 1 1 Lisenka Vissers
00054837 26757981-Pat3 PubMed: Lugtenberg 2016, Journal: Lugtenberg 2016 - M - - - - - - - ID mild ID (IQ65); speech delay; motor delay; concentration problems; oral hypotonia; hypotonia; toe walking; unexplained reduced vision; strabismus; recurrent respiratory infections; asthma; brachydactyly fingers; pedes plano valgi; fetal finger pads; sandal gap; simian crease; neonatal feeding difficulties; fever convulsions; fatiguel phimosis; hypertrichosis back; MRI/CT: megacisterna magna; muscle biopsy: low mitochondrial activity; born after 40+5w of gestation with normal birth weight; mild intellectual disability (HP:0001256); speech delay (HP:0000750) 1 1 Lisenka Vissers
00054838 26757981-Pat4 PubMed: Lugtenberg 2016, Journal: Lugtenberg 2016 - M - - - - - - - ID ID not formally assessed due to young age; Speech delay; motor delay; sleep disturbances; lack of eye contact at the age of 1 yr; oral hypotonia; hypotonia;recurrent respiratory infections; pedes plano valgi; large frontal fontanel; MRI/CT: normal; born after 37w of uncomplicated pregnancy with normal birth weight; speech delay (HP:0000750) 1 1 Lisenka Vissers
00054839 26757981-Pat5 PubMed: Lugtenberg 2016, Journal: Lugtenberg 2016 - F - - - - - - - ID Mild ID; Speech delay; Motor delay; concentration problems; sleep disturbances; oral hypotonia; hypotonia; hypermetropia (+3.75dpt); short hands and feet; low IgG class 2 and 3; MRI/CT: normal; mother used azathioprine, mesalazin and prednison during pregnancy. Delivery at 37+2 via C-section.; mild intellectual disability (HP:0001256); speech delay (HP:0000750) 1 1 Lisenka Vissers
00054848 26757981-Pat6 PubMed: Lugtenberg 2016, Journal: Lugtenberg 2016 - F - - - - - - - ID Motor delay; Anxiety; Concentration problems; Sleep disturbances; Autism; Oral Hypotonia; Unexplained reduced vision; Strabismus; Brachydactyly; Pedes plano valgi; tapering fingers; Fatigue; paroxymal atonia; Normal MRI; Born after 41+2w wit ventouse extraction after uncomplicated pregnancy; Birth weight -1SD; Apgar 5,8, 10 after 1, 5 and 10 minutes respectively; moderate intellectual disability (HP:0002342); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Lisenka Vissers
00054849 26757981-Pat7 PubMed: Lugtenberg 2016, Journal: Lugtenberg 2016 - F - - - - - - - ID Normal overall IQ (89); adaptive ability 70 (-2SD). Motor delay; autism.; born at 41w following augmentation via pitocin; Apgar scores were normal; Birthweight was normal; no speech delay (-HP:0000750) 1 1 Lisenka Vissers
00054850 26757981-Pat8 PubMed: Lugtenberg 2016, Journal: Lugtenberg 2016 - F - - - - - - - ID Mild ID (IQ 61); Adaptive ability = 69 (-2SD); Severe speech delay; Autism; hyper/hypometropia; Pulmonal abnormality (not further specified); kidney problems (not further specified); Abnormal MRI (not further specified); Vaginal delivary at 38w following Pitocin augmentation; Nuchal cord; Cerebral palsy diagnosed at birth; mild intellectual disability (HP:0001256); speech delay (HP:0000750) 1 1 Lisenka Vissers
00054851 26757981-Pat9 PubMed: Lugtenberg 2016, Journal: Lugtenberg 2016 - F - - - - - - - ID Mild ID (IQ65); speech delay; motor delay; anxiety; sleep disturbances; oral hypotonia; hypotonia; CVI; recurrent respiratory infections; brachydactyly; pedes plano valgi; fetal finger pads; hip dysplasia; simian crease; neonatal feeding difficulties; MRI: mild assymetrical frontotemporal hemisphere.; Born after 39+1w of gestation by ventouse extraction after uncomplicated pregnancy; Normal birth weight;; mild intellectual disability (HP:0001256); speech delay (HP:0000750) 1 1 Lisenka Vissers
00054852 26757981-Pat10 PubMed: Lugtenberg 2016, Journal: Lugtenberg 2016 - M - - - - - - - ID Mild ID (IQ61); Speech delay; motor delay; concentration problems; oral hypotonia; hypotonia; toe walking; normal vision; strabismus; pedes plano valgi; fetal finger pads; inverted nipples; MRI/CT: mild enlarged ventricles; Born at term after uncomplicated pregnancy; birth weight +2.5SD; mild intellectual disability (HP:0001256); speech delay (HP:0000750) 1 1 Lisenka Vissers
00111401 S_097 PubMed: Popp 2017, Journal: Popp 2017 - M no - - - - - - ID Hypotonia, mild ID, behavioral anomalies, synophrys; mild intellectual disability (HP:0001256); mild global developmental delay (HP:0011342) 1 1 Bernt Popp
00151419 - - - F - (Germany) - - - - - ? HP:0001256 (Intellectual disability, mild) 1 1 IMGAG
00183055 23033978-Trio40 PubMed: de Ligt 2012 - F - Netherlands - - - - - ID see paper; … 1 1 Johan den Dunnen
00289415 - - - F - - - - - - - ? Intellectual disability (HP:0001249); Macrocephaly (HP:0000256); Tall stature (HP:0000098) 1 1 Andreas Laner
00289427 - - - M - - - - - - - ? Global developmental delay (HP:0001263); Macrocephaly (HP:0000256); Telecanthus (HP:0000506); Short stature (HP:0004322); Acne (HP:0001061) 1 1 IMGAG
00295579 - - - F - - - - - - - ? Abnormality of the face (HP:0000271); Flat face (HP:0012368); Global developmental delay (HP:0001263); Synophrys (HP:0000664) 1 1 Andreas Laner
00296852 - - - F - - - - - - - ? Delayed speech and language development (HP:0000750); Abnormal facial shape (HP:0001999); Global developmental delay (HP:0001263) 1 1 Andreas Laner
00302658 FamPat1 PubMed: Leonardi 2020, Journal: Leonardi 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Italy - - - - - ID see paper; ... 1 1 Emanuela Leonardi
00302659 FamPat2 PubMed: Leonardi 2020, Journal: Leonardi 2020 2-generation family, 1 affected, unaffected parents F - Italy - - - - - ID see paper; ... 1 1 Emanuela Leonardi
00302660 FamPat3 PubMed: Leonardi 2020, Journal: Leonardi 2020 2-generation family, 1 affected, mosaic father M - Italy - - - - - ID see paper; ..., encephalopathy related to status epilepticus during slow sleep, mosaic father mildly affected 1 1 Emanuela Leonardi
00302661 - PubMed: Leonardi 2020, Journal: Leonardi 2020 carries de novo LoF variant in SETBP1 M - Italy - - - - - ID - 1 1 Emanuela Leonardi
00302662 Pat1 PubMed: DeSanto 2015 2-generation family, 2 affected sisters F - - white - - - - ID see paper; ... 1 2 Johan den Dunnen
00302663 Pat2 PubMed: DeSanto 2015 - F - - white - - - - ID see paper; ... 1 1 Johan den Dunnen
00302664 Pat3 PubMed: DeSanto 2015 - F - Italy;Puerto Rico - - - - - ID see paper; ... 1 1 Johan den Dunnen
00302665 Pat4 PubMed: DeSanto 2015 - M - Mexico - - - - - ID see paper; ... 1 1 Johan den Dunnen
00302666 Pat5 PubMed: DeSanto 2015 - F - - white - - - - ID see paper; ... 1 1 Johan den Dunnen
00302667 Pat6 PubMed: DeSanto 2015 - F - France;Hungary;Scotland - - - - - ID see paper; ... 1 1 Johan den Dunnen
00302770 762.297 PubMed: Hamdan 2015 - F - Canada - - - - - ID moderate intellectual disability; speech verbal; walk-24m; no epilepsy; no autistic features; no microcephaly; no macrocephaly; CT brain normal; no neurological abnormalities; no congenitial malformations; no cardiac malformations; no urogenitory abnormalities 1 1 Johan den Dunnen
00303058 Pat103 PubMed: Helbig 2016 - - - United States - - - - - seizures Unclassified epilepsy; age onset infantile 1 1 Johan den Dunnen
00307707 UK10K_FINDWGA5410715 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - ID - 1 1 Johan den Dunnen
00309950 - - - M - - - - - - - ? 2y-significant motor developmental delay (HP:0001270), speech 10 words, walking on the hand 1 1 Andreas Laner
00328437 - - - F - France - - - - - DESSH - 1 1 Svetlana Gorokhova
00328439 - - - F - France - - - - - DESSH - 1 1 Svetlana Gorokhova
00411263 198587 - - F ? Turkey - - - - - DESSH High palate, Brachycephaly, High forehead, Intellectual disability, Laryngomalacia, Abnormal heart morphology, Abnormal ventricular septum morphology 1 1 Andreas Laner
00416216 198587 - - F ? Turkey - - - - - DESSH Abnormal heart morphology, Abnormal ventricular septum morphology, Laryngomalacia, Brachycephaly, High forehead, High palate, Intellectual disability 1 1 Andreas Laner
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