All individuals with variants in gene PIGV

25 entries on 1 page. Showing entries 1 - 25.
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00025920 - PubMed: Krawitz 2010, PubMed: Horn 2010 3 siblings of unrelated parents with hyperphosphatasia and severe mental retardation syndrome. - no Germany white - - - - HPMRS1;GPIBD2 Oldest patien twas a 4-year-old girl, her brothers were dizygotic twin brothers of patient 1 and were 18 months old at time of first evaluation. Facial anomalies comprised hypertelorism, large appearing eyes, a short nose with a broad nasal bridge and tip, thin upper lip with down-turned corners of the mouth. Clinically and radiologically, shortness of several distal phalanges could be demonstrated which mainly affected digits II and V. All patients had a severe global developmental delay without any speech development. At two years, patient 2 developed seizures. Older sister had congenital megacolon. Twin brothers presented sensorineural deafness. 1 3 Philippe Campeau
00025921 - PubMed: Krawitz 2010, PubMed: Rabe 1991 two sibsters, 3 and 6 year-old, with with hyperphosphatasia and severe mental retardation syndrome 1. F ? - - - - - - HPMRS1;GPIBD2 The patients presented developmental retardation, facial and skeletal anomalies, and hyperphosphatasia. Facial features included hyperthelorism, wide palpebral fissures, broad nasal bridge, downturned corners of mouth. The prsented nail hypoplasia. 2 2 Philippe Campeau
00025922 - PubMed: Krawitz 2010, PubMed: Marcelis Two sisters with hyperphospatasia mental retardation 1. F yes Morocco African - - - - HPMRS1;GPIBD2 These siblings share severe mental retardation, epilepsy, anterior displaced anus, and hypoplastic nails. Fetal pads were noted on all fingers and toes. The nail hypoplasia was associated with hypoplasia of the distal phalanx of the fifth finger in the older sibling. Elder sister died suddenly at age 10 years. 1 2 Philippe Campeau
00025923 - PubMed: Krawitz 2010, PubMed: Thompson 2010 13-year-old proposita with hyperphophatasia and severe mental retardation. F no Germany white - - - - HPMRS1;GPIBD2 Her psychomotor development was considerably delayed. Epilepsy started as early as in her first year of life which responded well to treatment with valproic acid. Serum alkaline phosphatase was significantly and constantly elevated. Dysmorphic facial features include widely spaced eyes with an upward slant of palpebral fissures, a broad nasal bridge and tip, and a tented upper lip. Her hands and feet show bilateral brachytelephalangy including small nails. Radiographs of her left hand and left foot disclosed abnormally short distal phalanges of fingers and toes, respectively. 1 1 Philippe Campeau
00025924 - PubMed: Horn 2011 Index case with Hyperphosphatasia-mental retardation syndrome 1. ? ? Poland white - - - - HPMRS1;GPIBD2 Clinical features included developmental delay, elevated serum levels of AP, distinctive facial features, hypoplastic terminal phalanges, and anal atresia. 2 1 Philippe Campeau
00025925 - PubMed: Horn 2011 Index case with Hyperphosphatasia-mental retardation syndrome 1. ? ? Germany white - - - - HPMRS1;GPIBD2 Patient with developmental delay, elevated serum levels of AP, distinctive facial features, hypoplastic terminal phalanges, and Hirschsprung disease. 1 1 Philippe Campeau
00025926 - PubMed: Thompson 2012 Siblings with hyperphosphatasia with neurologic deficit. - no United Kingdom (Great Britain) white - - - - HPMRS1;GPIBD2 Elder sister was hypotonic at birth and had a round face, downturned mouth, and thickened helices. She developed tonic-clonic seizures at age 8 weeks. Renal ultrasound study showed unilateral hydronephrosis. She had an anteriorly placed anus and constipation, but a rectal biopsy showed normal innervation. Development was delayed and at the age 4 years. Long palpebral fissures, a prominent nasal bridge, simple cupped ears with thickened helices, and a tented upper lip with downturned corners of the mouth were observed. Brachytelephalangy was present with hypoplastic nails, especially on thumbs and little fingers. She developed a mild scoliosis. Her brother developed seizures after birth. He had Hirschsprung disease. He had simple cupped ears with thickened helices, a tented upper lip with downturned corners of the mouth, a high palate with bifid uvula, convergent squint, and glue ear. Development was profoundly delayed at age 5 years. Hypoplastic nails and diminutive terminal phalanges of all digits of both hands and feet suggested brachytelephalangy. He had problems swallowing secretions, and had multiple upper respiratory tract infections and was oxygen dependent. He died at 7 years of age. 2 1 Philippe Campeau
00025927 - PubMed: Thompson 2012 Index case with hyperphosphatasia with mental retardation. F yes Netherlands white - - - - HPMRS1;GPIBD2 At birth, features included a tented upper lip. Hands and feet were affected with hypoplasia of the terminal phalanges and missing nails on the second and fifth digits. At 2 years, Moderate to severe intellectual disability, hypotonia and growth delay were noted. Seizures developed after the age of 5 years. 2 1 Philippe Campeau
00025928 - PubMed: Thompson 2012 Index case with hyperphosphatasia with mental retardation 1. F no United States white - - - - HPMRS1;GPIBD2 Developmental delay was noted by the age of 16 months. Frequent generalized tonic-clonic seizures commenced at age 4 years. She had delayed psychomotor development and hypotonia, hypertelorism, a broad nasal bridge and tented upper lip. Her hands and feet were normal with no evidence of clinodactyly or brachytelephalangy. 1 1 Philippe Campeau
00025929 - PubMed: Howard 2014 Index case. F no United States white - - - - HPMRS4;GPIBD10 She presented global development delay, elevated serum ALP levels, and tonic-clonic and cluster seizures. Facial features included apparent hypertelorism, broad nasal bridge and nasal tip, short nose, Tented upper-lip vermilion . 1 1 Philippe Campeau
00050599 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? postnatal microcephaly, specific learning disability, hypoplastic iris stroma, low hanging columella 1 1 Johan den Dunnen
00155025 - PubMed: Xue 2016 - F no China - - - - - HPMRS1;GPIBD2 - 2 1 Philippe Campeau
00155027 - PubMed: Reynolds 2017 - M ? - - - - - - HPMRS1;GPIBD2 - 2 1 Philippe Campeau
00155028 Patient_1 PubMed: Horn 2014 - F yes - Pakistani - - - - ID - 1 1 Philippe Campeau
00155029 Patient_2 PubMed: Horn 2014 - M no - German - - - - ID - 1 1 Philippe Campeau
00155030 Patient_3 PubMed: Horn 2014 - F no - German - - - - ID - 1 1 Philippe Campeau
00155031 Patient_4 PubMed: Horn 2014 - M no - Croatian - - - - ID - 1 1 Philippe Campeau
00155032 Patient_5 PubMed: Horn 2014 - M no - Croatian - - - - ID - 1 1 Philippe Campeau
00155033 Patient_6 PubMed: Horn 2014 - M no - German - - - - ID - 2 1 Philippe Campeau
00155034 Patient_7 PubMed: Horn 2014 - F no - German - - - - ID - 1 1 Philippe Campeau
00155035 Patient_8 PubMed: Horn 2014 - M no - German - - - - ID - 2 1 Philippe Campeau
00155036 Patient_9 PubMed: Horn 2014 - F no - German - - - - ID - 2 1 Philippe Campeau
00207586 Patient PubMed: Coutton et al., 2013 Clinical and molecular characterization of a patient with de novo 1p36.11 microduplication including PIGV and ARID1A in a girl with intellectual disability and hexadactyly F no - - - - - - MRT Four‐limb postaxial hexadactyly. Facial dysmorphic features (broad nasal bridge and tip, short philtrum, thin upper lip, abnormal ears, spare scalp hairs), severe microcephaly of prenatal onset and overlapping toes. She also suffered of constipation, gastro‐oesophageal reflux, feeding problems and eczema in relation to a cow's milk protein allergy. Motor skills delay, severe developmental and speech delay. Serum ALP level was normal. 1 1 Philippe Campeau
00289812 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 42 Mohammed Faruq
00304196 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
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