Phenotypes for disease #00541 (HPMRS1;GPIBD2 (hyperphosphatasia, with mental retardation syndrome, type 1 (HPMRS-1, glycosylphosphatidylinositol deficiency, type 2 (GPIBD-2))), OMIM:239300)

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0000021990 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. - - Familial, autosomal recessive - - - - - Philippe Campeau 00025920
0000021991 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. - - Familial, autosomal recessive - - - - - Philippe Campeau 00025921
0000021992 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. - - Familial, autosomal recessive - - - - - Philippe Campeau 00025922
0000021993 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. - - Familial, autosomal recessive - - - - - Philippe Campeau 00025923
0000021994 Clinical features included developmental delay, elevated serum levels of AP, distinctive facial features, hypoplastic terminal phalanges, and anal atresia. - - Familial, autosomal recessive - - - - - Philippe Campeau 00025924
0000021995 Patient with developmental delay, elevated serum levels of AP, distinctive facial features, hypoplastic terminal phalanges, and Hirschsprung disease. - - Familial, autosomal recessive - - - - - Philippe Campeau 00025925
0000021996 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. - - Familial, autosomal recessive - - - - - Philippe Campeau 00025926
0000021997 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. - - Familial, autosomal recessive - - - - - Philippe Campeau 00025927
0000021998 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. - - Familial, autosomal recessive - - - - - Philippe Campeau 00025928
0000155302 Myoclonic seizures. Inguinal herna, hydrocele, strabismus. Global DD. Dysmorphic features (prominent forehead, high arched eyebrows and sparse on the outer third, nystagmus, mild telecanthus, uplifted ear lobes, open mouth with intermittent drooling). Pectus excavatum, clinodactyly involving the fifth digits, 4th and 5th toes bilaterally. reducible umbilical hernia, mild hepatomegaly, and ataxic gait. Brain MRI showed symmetrical bilateral patchy signal abnormalities in the periventricular zones in the parietal, occipital and frontal regions, white matter loss, and thin corpus callosum. Elevated ALP (968 U/L). No skin abnormalities. Normal hearing and heart evaluations. Normal Vitamin E and alpha-fetoprotein. - - Familial, autosomal recessive 00y06m - - - - Philippe Campeau 00207524
0000155303 Global DD. Tonic-clonic seizures. Strabismus (was surgically corrected). Coarse facial features (high hairlines, hypertelorism, epicanthal folds, horizontal nystagmus, depressed nasal bridge, delayed teeth eruption, everted and partially bifid lower lip, folded ears, and irregular hypopigmented skin margins surrounding the eyes and the nose.) Spastic lower limbs, bilateral brachydactyly, severe clinodactyly of both fifth fingers and toes and dry eczematous skin. High ALP level (454 U/L). No chest deformity or organomegaly. - - Familial, autosomal recessive 00y04m - - - - Philippe Campeau 00207525
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