All individuals with variants in gene DPP6

14 entries on 1 page. Showing entries 1 - 14.
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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) 1 1 Yu Sun
00004236 - - summary data from a large study; patients from 3 distantly related families and 7/42 independent patients - no Netherlands - - - - - VF2 Idiopathic Ventricular Fibrillation (IVF), sudden death/successfully resuscitated at young age 2 20 Johan den Dunnen
00019611 - - - M - (Italy) white - - - - GTS - 1 1 B. Augello
00064739 - - - M - Denmark - 48y - - - SUD - 1 1 Sofie Lindgren Christiansen
00210054 RP PubMed: Vadgama 2019, Journal: Vadgama 2019 - M no - - - - - - autism - 1 1 Nirmal Vadgama
00311395 Pat13 PubMed: Granadillo 2020 2-generation family, affected mother/son M - - white;Hispanic - - - - NDD birth weight normal, length normal; normal height, weight >2SD, OFC 1.35; developmental delay/intellectual disability, WISC: VCI 79, PRI 71, PSI 73; no gross motor delay, fine motor delay, walk-11m; speech delay, 5y-first words; autism, attention deficit hyperactivity disorder; hypotonia; sleep problems latency; no hearing loss; normal vision; broad palms, repair of tibial malformation; normal face, normal forehead, normal eyes, normal ears, normal nose, normal mouth; no gastrointestinal problems; MRI brain normal; ECG normal; renal ultrasound normal; cryptorchidism; mother has learning disability, attention deficit hyperactivity disorder, type 2 diabetes mellitus, scoliosis, migraine; father has social differences, compulsions, anxiety 1 2 Johan den Dunnen
00311406 BY0712 PubMed: Liao 2013 - M - China - - - - - ? microcephaly, OFC 47 cm (<−3SD), small stature (110 cm, <−3SD), low body weight (29 kg, <−3SD), microcephaly, moderate mental retardation; can not concentrate on work, speaks single words with ambiguous pronunciation; skeletal radiographs show delayed bone age 1 1 Johan den Dunnen
00311407 BY2018 PubMed: Liao 2013 - F - China - - - - - ? microcephaly, OFC 48 cm (<-3SD), small stature (130 cm, <−3SD), low body weight (30.5 kg, <−3SD), microcephaly, moderate mental retardation; speaks only single words with ambiguous pronunciation; scoliosis, congenital amblyopia resulting from chorioretinal degeneration 1 1 Johan den Dunnen
00311408 FamPatBY2950(vaseIII1) PubMed: Liao 2013 3-generation family, 4 affected (3F, M) F - China - - - - - ? microcephaly, OFC 44 cm (<−3SD), small stature (93 cm, <−3SD), low body weight (13 kg, <−3SD), microcephaly, severe mental retardation; not able to recognize colours and numbers; psychomotor delay which equal to 2y level; hyperactive 1 4 Johan den Dunnen
00311409 FamCaseII2 PubMed: Liao 2013 mother F - China - - - - - ? microcephaly, OFC 50 cm (<−3SD), small stature (156 cm, <−2SD), low body weight (44 kg, <−3SD, mild mental retardation; no sign of dominant phenotypic abnormality except for microcephaly and mild mental retardation (IQ65 measured with the Wechsler Adult Intelligence Scale) 1 1 Johan den Dunnen
00311410 FamCaseII3 PubMed: Liao 2013 aunt F - China - - - - - ? microcephaly, OFC 50 cm (<−3SD), normal stature (162 cm), low body weight (45 kg, <−3SD), severe mental retardation; severe cognitive deficiency, memorial problems; does not comprehend a complete sentence, such as instructions on how to take medicine; not able to remember events that happened 3-4y ago, including childhood anecdotes and year of wedding; in daily life afraid to get far away from the house (not able to find her way back home) 1 1 Johan den Dunnen
00311411 FamCaseI1 PubMed: Liao 2013 grandfather M - China - - - - - ? microcephaly, OFC 51 cm (<−2SD), small stature (163 cm, <−2SD), low body weight(49 kg, <−3SD), borderline mental retardation; no sign of dominant phenotypic abnormality except for microcephaly and mild mental retardation (IQ66 measured with Wechsler Adult Intelligence Scale); very poor performance in math 1 1 Johan den Dunnen
00374717 S-3158 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00419584 9068 PubMed: Marinakis 2021 - M - Greece - - - - - ? - 1 1 Jan Traeger-Synodinos
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