Phenotypes for disease #04060 (HPMRS4;GPIBD10 (hyperphosphatasia, with mental retardation syndrome, type 4 (HPMRS-4, glycosylphosphatidylinositol deficiency, type 10 (GPIBD-10))), OMIM:615716)

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0000021575 All three children presented profound developmental delay, severe learning disability, no speech, psychomotor delay, postnatal microcephaly, and high levels of serum ALP. 2 over three had generalized tonic-clonic seizures. All had involuntary midline hand movements, and bruxism. Facial features included apparent hypertelorism, Upslanting palpebral fissures, Broad nasal bridge and nasal tip, short nose, Tented upper-lip vermilion, Large, fleshy ear lobes, cleft lip in 2 over 3, - - Familial, autosomal recessive - - - - - Philippe Campeau 00025462
0000021576 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 . - - Familial, autosomal recessive 10y - - - - Philippe Campeau 00025463
0000021577 She had severe psychomotor delay. Myoclonic seizures started in her second year of life. Physical examination of this 2-year-old female showed normal growth parameters and OFC but axial muscular hypotonia, uncoordinated movements, and facial dysmorphism including hypertelorism, short nose with broad bridge and tip, Tented upper-lip vermilion and Large, fleshy ear lobes. ALP activity was elevated. - - Familial, autosomal recessive 02y - - - - Philippe Campeau 00025464
0000021999 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 . - - Familial, autosomal recessive 10y - - - - Philippe Campeau 00025929
0000060527 Hyperphosphatasia with mental retardation syndrome 4 (OMIM:615716) - - Familial, autosomal recessive - - - - - Daniel Trujillano 00080958
0000155157 Severe psychomotor delay, ID, delay speech, behaviour difficulties, seizures, facial dysmorphism, muscular hypotonia, MRI abnormalities (Dandy walker malformation), High ALP levels (703 U/L) - - Familial, autosomal recessive 08y - - - - Philippe Campeau 00207386
0000155158 Severe psychomotor delay, ID, delay speech, behaviour difficulties, seizures, Facial dysmorphism, Muscular hypotonia, cleft palate, High ALP levels (>600 U/L) - - Familial, autosomal recessive 04y - - - - Philippe Campeau 00207387
0000155159 Severe psychomotor delay, ID, delay speech, behaviour difficulties, seizures, Facial dysmorphism, Muscular hypotonia, MRI abnormalities (cortical dysplasia), cleft palate, High ALP levels (>600 U/L) - - Familial, autosomal recessive 07y - - - - Philippe Campeau 00207388
0000155160 Severe psychomotor delay, ID, delay speech, behaviour difficulties, Facial dysmorphism, Muscular hypotonia, Other findings (obesity), High ALP levels (>800 U/L) - - Familial, autosomal recessive 04y - - - - Philippe Campeau 00207389
0000155161 Severe psychomotor delay, ID, delay speech, behaviour difficulties, Facial dysmorphism, Muscular hypotonia, heart abnormalities (multiple atrial septal defect (ASD)), cleft palate, Other findings (abnormal teeth), High ALP levels (>800 U/L) - - Familial, autosomal recessive 08y - - - - Philippe Campeau 00207390
0000155162 Severe psychomotor delay, ID, delay speech, behaviour difficulties, Facial dysmorphism, Muscular hypotonia, Other findings (laryngomalacia), High ALP levels (1123 U/L) - - Familial, autosomal recessive 06y - - - - Philippe Campeau 00207391
0000155163 Severe psychomotor delay, ID, delay speech, behaviour difficulties, Facial dysmorphism, Muscular hypotonia, skeletal abnormalities (congenital hip dysplasia), opthalmological abnormalities (megalocornea), Heart abnormalities (Small ASD), Cleft palate, High ALP levels (1212 U/L) - - Familial, autosomal recessive 00y00m01d - - - - Philippe Campeau 00207392
0000155164 Severe psychomotor delay, ID, delay speech, behaviour difficulties, Facial dysmorphism, Muscular hypotonia, MRI abnormalities (Rathke cleft cyst), Cleft palate, Other findings (abnormal teeth), High ALP levels (848 U/L) - - Familial, autosomal recessive 10y - - - - Philippe Campeau 00207393
0000155165 Severe psychomotor delay, ID, delay speech, behaviour difficulties, Facial dysmorphism, Muscular hypotonia, MRI abnormalities (hypoplasia of cerebral vermis), skeletal abnormalities (captodactly of 5th finger), Cleft palate, Other findings (abnormal teeth), High ALP levels (848 U/L) - - Familial, autosomal recessive 13y - - - - Philippe Campeau 00207394
0000155166 Severe psychomotor delay, ID, delay speech, behaviour difficulties, Facial dysmorphism, Muscular hypotonia, skeletal abnormalities (fractures), Opthalmological abnormalities (megalocornea), Heart abnormalities (repaired arterial septal defect (ASD)), Other findings (hyperpigmented macules of the LT upper thigh, inguinal hernia, abnormal teeth), High ALP levels (1340 U/L) - - Familial, autosomal recessive 02y - - - - Philippe Campeau 00207395
0000155167 Severe psychomotor delay, ID, delay speech, behaviour difficulties, Seizures (age at onset: 4 years, treatable), Facial dysmorphism, Muscular hypotonia, Opthalmological abnormalities (megalocornea), High ALP levels (1103 U/L) - - Familial, autosomal recessive 08y - - - - Philippe Campeau 00207396
0000155168 Severe psychomotor delay, ID, delay speech, behaviour difficulties, Facial dysmorphism, Muscular hypotonia, Opthalmological abnormalities (megalocornea), Otological abnormalities (severe bilateral hearing loss), Cleft palate, High ALP levels (890 U/L) - - Familial, autosomal recessive 02y - - - - Philippe Campeau 00207397
0000155169 Severe psychomotor delay, ID, delay speech, behaviour difficulties, Seizure (multifocal epileptic foci from both hemispheres), Facial dysmorphism, Muscular hypotonia, skeletal abnormalities (bilateral coxa valga), Opthalmological abnormalities (megalocornea), cleft palate, Other findings (bilateral inguinal hernia, undescended testes, abnormal teeth), High ALP levels (644 U/L). - - Familial, autosomal recessive 07y - - - - Philippe Campeau 00207398
0000155170 Severe psychomotor delay, ID, delay speech, behaviour difficulties, facial dysmorphism, muscular hypotonia, MRI abnormalities (Dandy walker malformation), skeletal abnormalities (pectus excavatum, bilateral coxa valga), Otological abnormalities (mild hearing loss), cleft palate, High ALP levels (883.2 U/L) - - Familial, autosomal recessive 05y - - - - Philippe Campeau 00207399
0000155171 Dysmorphic features (tented thin upper lip, broad nasal bridge, hypertelorism, large fleshy ear lobes, short upturned nose, cleft palate, upslanted palpebral fissures, long philtrum, brachycephaly, large anterior fontanel size), Postnatal microcephaly, Short stature, Neurological abnormalities (global DD, Hypotonia), Brain abnormalities (thin/dysgenetic corpus callosum, mild ventriculomegaly, frontoparietal atrophy), Dysphagia, CVS Anomalies (patent foramen ovale (PFO)), Extremity abnormalities (brittle/hypoplastic nails, thin/sparse hair), Others (inguinal hernia, intestinal malrotation, ear pit nystagmus), ALP levels (672-837 U/L). - - Familial, autosomal recessive 00y00m54d - 00y00m00d - - Philippe Campeau 00207400
0000155172 Dysmorphic features (tented thin upper lip, broad nasal bridge, hypertelorism, large fleshy ear lobes, short upturned nose, upslanted palpebral fissures, long philtrum, brachycephaly, large anterior fontanel size, gum hypertrophy), Neurological abnormalities (global DD, Hypotonia), Brain abnormalities (thin/dysgenetic corpus callosum), Dysphagia, CVS Anomalies (patent ductus arteriosus (PDA), concentric ventricle hypertrophy), Extremity abnormalities (pes equinovarus, thin/sparse hair), Others (umbilical hernia, pectus excavatum), ALP levels (756-821 U/L) - - Familial, autosomal recessive 00y01m - <00y01m - - Philippe Campeau 00207401
0000155173 ID, global DD, epilepsy, dysmorphism, microcephaly and other structural brain anomalies, autism - - Familial, autosomal recessive - - - - - Philippe Campeau 00207402
0000155174 ID, global DD, epilepsy, dysmorphism, microcephaly and other structural brain anomalies, autism - - Familial, autosomal recessive - - - - - Philippe Campeau 00207403
0000155176 Multiple congenital anomalies (broad nasal bridge, tented upper lip vermilion, cleft palate, low set ears, micrognathia, retrognathia, brachytelephalangy, left sided cryptorchidism, wide feet, and broad toes). Progressive thoracic scoliosis. Hypotonia. Recurrent generalized seizures with dysrhythmic electroencephalographic paroxysmal changes. Thin corpus callosum. Severe psychomotor developmental delay, autistic behavior, and bruxism. Vision and hearing are normal, but cannot control egestion. Elevated ALP levels. - - Familial, autosomal recessive 01y >06y - - - Philippe Campeau 00207405
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