All individuals with variants in gene PGAP2

16 entries on 1 page. Showing entries 1 - 16.
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00025130 - PubMed: Hansen 2013 Family with three girls with autosomal recessive hyperphosphatasia with mental retardation-3. F yes Syria African - - - - HPMRS3;GPIBD8 The sisters of the first branch had an IQ below 35. Their motor development was severely delayed, and they had pronounced muscular weakness, hypotonia, and strabismus. Sleep patterns of both girls were disordered. Serum ALP activity was elevated. CT showed atrophy and increased gyration in both girls. Elder sister showed signs of Dandy-Walker malformation. Both girls had stature and head circumference belos the 5th percentile. Parents had also HC below the 5th percentile. The third girl, of the second branch, had hypotonia at birth. Motor development and language were severely delayed. Brain CT showed atrophy. Muscle atrophy was found by biopsy. 1 1 Philippe Campeau
00025486 - PubMed: Krawitz 2013 Index case F no Finland white - - - - HPMRS3;GPIBD8 Mild intellectual disability and seizures. Facial features included broad nasal bridge and tented upper lip vermilion. Elevated ALP. 2 1 Philippe Campeau
00028965 - PubMed: Hansen et al 2013 PubMed: Rehman et al 2011 Family with 4 affected siblings. (2 males and 2 females) - yes Pakistan - - - - - HPMRS3;GPIBD8 Average IQ 22, None had epilepsy. Clinical examination was normal. No data about ALP values. 1 1 Philippe Campeau
00028966 - PubMed: Krawitz et al 2013 Index case M yes Turkey - - - - - HPMRS3;GPIBD8 OFC at birt below 2 SD, cleft palate and Hirschprung at birth, atrial septal defect, hypoplasia of corpus callosum. Intellectual impairment, hypotonia, myoclonic and tonic-clonic seizures, sensorineural hearing loss. Scoliosis, wide palpebral fissures, wide mouth. Hypoplasic fingernails. ALP elevated. 1 1 Philippe Campeau
00154948 - PubMed: Jezela-Stanek 2016 - F no - - - - - - ? - 2 1 Philippe Campeau
00154977 patient_1 PubMed: Naseer 2016 - M yes Saudi Arabia - - - - - HPMRS3;GPIBD8 - 1 2 Philippe Campeau
00154978 patient_2 PubMed: Naseer 2016 - F yes Saudi Arabia - - - - - HPMRS3;GPIBD8 - 1 1 Philippe Campeau
00207490 IV-3 PubMed: Perez et al., 2017 Consanguineous Bedouin kindred presenting with an autosomal recessive syndrome of intellectual disability and elevated serum alkaline phosphatase.  M yes Saudi Arabia Bedouin >25y - - - HPMRS3;GPIBD8 Mild mental retardation, mood problems, depression, speech difficulties, past history of febrile convulsions, Elevated alkaline phosphatase (499 IU/L) 1 1 Philippe Campeau
00207491 IV-5 PubMed: Perez et al., 2017 consanguineous Bedouin kindred presenting with an autosomal recessive syndrome of intellectual disability and elevated serum alkaline phosphatase.  M yes Saudi Arabia Bedouin >18y - - - HPMRS3;GPIBD8 Developmental delay, Moderate mental retardation, Behavioral problems- aggression, Past history of seizures without fever, Elevated alkaline phosphatase (673 IU/L), generalized interictal spike and slow epileptiform discharges in EEG. No organ anomaly, No signs of dysmorphism, Normal cranial, motor, sensory, gait, and cerebellar exam, normal brain MRI 1 1 Philippe Campeau
00207493 IV-6 PubMed: Perez et al., 2017 consanguineous Bedouin kindred presenting with an autosomal recessive syndrome of intellectual disability and elevated serum alkaline phosphatase.  F yes Saudi Arabia Bedouin >15y - - - HPMRS3;GPIBD8 Mild mental retardation, Mood problems- depression Speech difficulaties, Elevated alkaline phosphatase (>1000 IU/L). No organ anomaly, no signs of dysmorphism. 1 1 Philippe Campeau
00207494 IV-7 PubMed: Perez et al., 2017 consanguineous Bedouin kindred presenting with an autosomal recessive syndrome of intellectual disability and elevated serum alkaline phosphatase.  F yes Saudi Arabia Bedouin >11y - - - HPMRS3;GPIBD8 Developmental delay, Mild mental retardation, Speech difficulties, Enuresis, Elevated alkaline phosphatase (1318 IU/L). No organ anomaly, No signs of dysmorphism, Normal cranial, motor, sensory, gait, and cerebellar exam, normal spine MRI. 1 1 Philippe Campeau
00207496 U6 PubMed: Reid et al., 2016 Found in a gene panel targeting (614) genes causing inborn errors of metabolism M - - - >02y03m - - - HPMRS3;GPIBD8 Global severe developmental delay, tonic seizures. Multiorgan malformations including VSD, Hirschprung’s. Dysmorphism. Recurrent hypoglycaemia; hypogammaglobulinaemia, hyperphosphatasia. Dandy-Walker malformation, reduced white matter bulk. 1 1 Philippe Campeau
00269874 - - - ? - - - - - - - ? Nystagmus (HP:0000639); Global developmental delay (HP:0001263) 1 1 IMGAG
00274197 Pat73 PubMed: Pronicka 2016 - F - Poland - - - - - ? neonatal onset; mitochondrial disease criteria score 3; muscle biopsy 2 1 Johan den Dunnen
00331542 14DG0688 PubMed: Maddirevula 2018 family M yes - Arab - - - - skeletal dysplasia Global developmental delay, Seizures, Hyperphosphatemia, Elevated alkaline phosphataseNo 1 1 LOVD
00403850 TF001 PubMed: Froukh 2020 analysis 103 families with neurodevelopmental disorders - - Jordan - - - - - NDD - 1 1 Johan den Dunnen
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