Phenotypes for disease #03582 (HPMRS3;GPIBD8 (hyperphosphatasia, with mental retardation syndrome, type 3 (HPMRS-3, glycosylphosphatidylinositol deficiency, type 8 (GPIBD-8))), OMIM:614207)

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0000021241 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. - - Familial, autosomal recessive - - - - - Philippe Campeau 00025130
0000021598 Mild intellectual disability and seizures. Facial features included broad nasal bridge and tented upper lip vermilion. Elevated ALP. - - Familial, autosomal recessive 28y - - - - Philippe Campeau 00025486
0000024991 Average IQ 22, None had epilepsy. Clinical examination was normal. No data about ALP values. - - Familial, autosomal recessive - - - - - Philippe Campeau 00028965
0000024992 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. - - Familial, autosomal recessive - - - - - Philippe Campeau 00028966
0000127710 - - - Familial, autosomal recessive - - - - - Philippe Campeau 00154977
0000127711 - - - Familial, autosomal recessive - - - - - Philippe Campeau 00154978
0000155267 Mild mental retardation, mood problems, depression, speech difficulties, past history of febrile convulsions, Elevated alkaline phosphatase (499 IU/L) - HPMRS3 Familial, autosomal recessive 23y - - - - Philippe Campeau 00207490
0000155268 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 - HPMRS3 Familial, autosomal recessive 17y - - - - Philippe Campeau 00207491
0000155270 Mild mental retardation, Mood problems- depression Speech difficulaties, Elevated alkaline phosphatase (>1000 IU/L). No organ anomaly, no signs of dysmorphism. - HPMRS3 Familial, autosomal recessive 10y - - - - Philippe Campeau 00207493
0000155271 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. - HPMRS3 Familial, autosomal recessive 10y - - - - Philippe Campeau 00207494
0000155274 Global severe developmental delay, tonic seizures. Multiorgan malformations including VSD, Hirschprung’s. Dysmorphism. Recurrent hypoglycaemia; hypogammaglobulinaemia, hyperphosphatasia. Dandy-Walker malformation, reduced white matter bulk. - - Familial, autosomal recessive 02y - - - - Philippe Campeau 00207496
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