Phenotypes for disease #00624 (RNS (Raine syndrome), OMIM:259775)

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Phenotype details     
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Phenotype/Onset     
Protein     
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0000201941 gestation 37w; survived <10d; prominent forehead, proptosis, midfacial hypoplasia, depressed nasal bridge, osteosclerosis, periosteal bone formation, thoracic hypoplasia, pulmonary hypoplasia Raine syndrome RNS Familial, autosomal recessive - - - - - Johan den Dunnen 00264098
0000201942 see paper; ..., gestation 37w; survived <10d; prominent forehead, proptosis, midfacial hypoplasia, depressed nasal bridge, osteosclerosis, periosteal bone formation, thoracic hypoplasia, no pulmonary hypoplasia lethal sclerosing bone dysplasia RNS Familial, autosomal recessive - - - - - Johan den Dunnen 00264099
0000201943 gestation 38w; survived <10d; prominent forehead, proptosis, midfacial hypoplasia, depressed nasal bridge, osteosclerosis, periosteal bone formation, thoracic hypoplasia, pulmonary hypoplasia Raine syndrome RNS Familial, autosomal recessive - - - - - Johan den Dunnen 00264100
0000201944 see paper; ..., gestation 36w; survived >10d; prominent forehead, proptosis, midfacial hypoplasia, depressed nasal bridge, osteosclerosis, periosteal bone formation, no cerebral calcifications, thoracic hypoplasia, no pulmonary hypoplasia Raine syndrome RNS Familial, autosomal recessive - - - - - Johan den Dunnen 00264101
0000201945 see paper; ..., gestation 32w; survived <10d; prominent forehead, proptosis, midfacial hypoplasia, depressed nasal bridge, osteosclerosis, periosteal bone formation, cerebral calcifications, thoracic hypoplasia, pulmonary hypoplasia Raine syndrome RNS Familial, autosomal recessive - - - - - Johan den Dunnen 00264102
0000201946 gestation 38w; survived >10d; prominent forehead, proptosis, midfacial hypoplasia, depressed nasal bridge, osteosclerosis, periosteal bone formation, cerebral calcifications, no thoracic hypoplasia, no pulmonary hypoplasia Raine syndrome RNS Familial, autosomal recessive - - - - - Johan den Dunnen 00264103
0000201947 gestation 32w; survived <10d; prominent forehead, proptosis, midfacial hypoplasia, depressed nasal bridge, osteosclerosis, periosteal bone formation, cerebral calcifications, thoracic hypoplasia, pulmonary hypoplasia Raine syndrome RNS Familial, autosomal recessive - - - - - Johan den Dunnen 00264104
0000201959 see paper; … non-lethal osteosclerotic bone dysplasia RNS Familial, autosomal recessive - - - - - Johan den Dunnen 00264119
0000201960 see paper; … non-lethal osteosclerotic bone dysplasia RNS Familial, autosomal recessive - - - - - Johan den Dunnen 00264120
0000201961 see paper; … osteosclerotic bone dysplasia RNS Familial, autosomal recessive - - - - - Johan den Dunnen 00264121
0000281596 HP:0000453, HP:0000377, HP:0000212, HP:0005280, HP:0000218, HP:0000695, HP:0000248, HP:0000270, HP:0000463, HP:0008501; abnormal 32-week scan with clover-leaf skull, non-ossified nasal bone, midface hypoplasia, bulging eyelids and irregular contour of long bones; born at full-term, Apgar score 9/10, birth-weight 2900 g; noisy breathing, feeding difficulties due to right-sided choanal atresia, vital parameters and oxygen-saturation stable; weight 2.75 kg (Z 0 to -2), length 46 cm (Z 0 to -2), OFC32.5 cm (Z -1 to -2); osteopetrosis osteosclerosis, poor cortico-medullary-differentiation and microfractures left femur and fibula - Familial, autosomal recessive 00y00m21d 00y00m21d - - - Wei-Hong Lai 00387998
0000349758 see paper; ..., 8m-deceased Raine syndrome RNS Familial, autosomal recessive 00y08m - - - - Johan den Dunnen 00462258
0000349760 see paper; ..., hypoplastic amelogenesis imperfecta (abnormal dental enamel formation), mild facial dysmorphism, no other obvious skeletal/growth abnormalities; mild hypophosphataemia and soft tissue ectopic mineralization Raine syndrome RNS Familial, autosomal recessive - - - - - Johan den Dunnen 00462260
0000349762 see paper; ..., hypoplastic amelogenesis imperfecta, tooth dentine abnormalities, facial dysmorphism, hypophosphataemia, soft tissue ectopic mineralization, no osteosclerosis Raine syndrome RNS Familial, autosomal recessive - - - - - Johan den Dunnen 00462262
0000349763 see paper; ..., exorbitism, hypoplastic nose, midface hypoplasia; small mouth, down-curved corners; distinct pattern of intracranial calcification Raine syndrome RNS Familial, autosomal recessive - - - - - Johan den Dunnen 00462263
0000349764 see paper; ..., exorbitism, hypoplastic nose, midface hypoplasia; small mouth, down-curved corners; distinct pattern of intracranial calcification Raine syndrome RNS Familial, autosomal recessive - - - - - Johan den Dunnen 00462264
0000349765 see paper; ..., exorbitism, hypoplastic nose, midface hypoplasia; small mouth, down-curved corners; distinct pattern of intracranial calcification Raine syndrome RNS Familial, autosomal recessive - - - - - Johan den Dunnen 00462265
0000349768 see paper; ..., hypophosphatemia; prenatal ultrasound nasal bone agenesis; large anterior fontanel, frontal bossing, exophthalmos, hypoplastic nose, high arched palate, low set ears, triangular mouth, corneal opacification hypophosphatemia RNS Familial, autosomal recessive 00y09m - - - - Johan den Dunnen 00462268
0000349769 see paper; ..., underdeveloped midface, flattened forehead, small nose, depressed nasal bridge, anteverted nares, small mouth, narrow palate, epicanthal fold; choanal atresia/stenosis; pectus excavatum, bulbous fingertips; osteosclerosis in the ribs and costovertebral joints; no fractures; intracerebral calcifications; no seizures; hearing loss Raine syndrome RNS Familial, autosomal recessive 01y - 00y00m01d - - Johan den Dunnen 00462269
0000349770 see paper; ..., generalized osteosclerosis generalized osteosclerosis RNS Familial, autosomal recessive - - - - - Johan den Dunnen 00462270
0000349771 see paper; ..., pain extremities, osteosclerosis with periosteal bone formation, multiple calcifications in solid organs, midface hypoplasia, exophthalmos, amelogenesis imperfecta, shortening distal phalanges, pectus excavatum, hypophosphatemia due to renal phosphate wasting Raine syndrome RNS Familial, autosomal recessive 39y - - - - Johan den Dunnen 00462271
0000349772 see paper; ..., facial dysmorphy, delayed speech, delayed cognition; radiography small sclerotic areas lower part right femur, abnormally-shaped skull with minimal sclerosis lower occipital region Raine syndrome RNS Familial, autosomal recessive 06y - - - - Johan den Dunnen 00462272
0000349773 see papers; ... Raine syndrome RNS Familial, autosomal recessive - - - - - Johan den Dunnen 00462273
0000349774 see paper; ... Raine syndrome RNS Familial, autosomal recessive - - - - - Johan den Dunnen 00462274
0000349775 see paper; ... Raine syndrome RNS Familial, autosomal recessive - - - - - Johan den Dunnen 00462275
0000349776 see paper; ... Raine syndrome RNS Familial, autosomal recessive - - - - - Johan den Dunnen 00462276
0000349777 see paper; ..., hypophosphatemia, dental anomalies, ectopic calcification hypophosphatemia RNS Familial, autosomal recessive - - - - - Johan den Dunnen 00462277
0000349779 see paper; ..., pyriform aperture stenosis; fetus characteristic cerebral hyperechogenicity, hypoplastic nose; craniofacial abnormalities, intracranial calcification, osteosclerosis, chondrodysplasia punctata pyriform aperture stenosis RNS Familial, autosomal recessive 02y - - - - Johan den Dunnen 00462279
0000349782 see paper; ..., 1d-deceased (progressive hypoxemia with intermittent worsening bradycardia); birth cyanotic - RNS Familial, autosomal recessive 00y00m01d - - - - Johan den Dunnen 00462282
0000349783 see paper; ..., low birth weight, microcephaly, sclerosis of skull, intracranial calcifications, cranial sutures, ridged, fontanelles, delayed closure (large), clover leaf skull, prominent forehead, low set ears, prominent eyes/proptosis, entropion of eyelids, choanal atresia/stenosis, small/short nose, depressed/flat nasal bridge, flat face, mid facial hypoplasia, mandible, general abnormalities, small mandible/micrognathia, hypoplastic maxilla (excluding malar region), open mouth appearance, long philtrum, cleft palate, narrow thorax, lung hypoplasia, hydronephrosis, bowed femur/tibia, osteosclerosis, cortical hyperostosis, wide metaphysic Raine syndrome RNS Familial, autosomal recessive - - - - - Johan den Dunnen 00462285
0000349784 see paper; ..., lethal osteosclerotic bone dysplasia osteosclerotic bone dysplasia RNS Familial, autosomal recessive - - - - - Johan den Dunnen 00462286
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