Phenotypes for disease #04184 (stature, short (stature, short))

78 entries on 1 page. Showing entries 1 - 78.
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Phenotype details     
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Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Protein     
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Individual ID     
0000025871 - - - Unknown - - - - - Sophie Ran Wang 00029814
0000025872 - - - Unknown - - - - - Sophie Ran Wang 00029818
0000034686 see paper; high IGFI levels, short stature, type 2 diabetes (5 individuals), ... - - Familial, autosomal dominant - - - - - Johan den Dunnen 00047816
0000059425 short stature, idiopathic, autosomal - - Familial, autosomal recessive - - - - - Vivian Hwa 00079714
0000059426 short stature, idiopathic, autosomal - - Familial, autosomal recessive - - - - - HM Domene 00079715
0000059427 short stature, idiopathic, autosomal - - Familial, autosomal recessive - - - - - HM Domene 00079716
0000059428 short stature, idiopathic, autosomal - - Familial, autosomal recessive - - - - - HM Domene 00079717
0000059429 short stature, idiopathic, autosomal - - Familial, autosomal recessive - - - - - J Argente & J Pozo 00079718
0000059430 short stature, idiopathic, autosomal - - Familial, autosomal recessive - - - - - J Argente & J Pozo 00079719
0000059431 short stature, idiopathic, autosomal; dysmorphic face w/mandibular hypoplasia, prominent forehead - - Familial, autosomal recessive - - - - - Hermine van Duyvenvoorde 00079720
0000059432 short stature, idiopathic, autosomal - - Familial, autosomal recessive - - - - - Hermine van Duyvenvoorde 00079721
0000059433 short stature, idiopathic, autosomal; dysmorphic face w/mandibular hypoplasia, prominent forehead - - Familial, autosomal recessive - - - - - Hermine van Duyvenvoorde 00079722
0000059434 short stature, idiopathic, autosomal - - Familial, autosomal recessive - - - - - Vivian Hwa 00079723
0000059438 short stature, idiopathic, autosomal - - Familial, autosomal recessive - - - - - J Argente & J Pozo 00079727
0000059440 mild micrognathia, truncal obesity; short stature, idiopathic, autosomal - - Unknown - - - - - HM Domene 00079729
0000059491 short stature, idiopathic - - Familial, autosomal recessive - - - - - Johan den Dunnen 00079780
0000059535 short stature; Growth Hormone Insensitivity; 9y-serum IGF-1 >30µg/l, serum GH level increased to 10.8µg/l by Arginine, to 9.1µg/L by Clonidine, to 2.0µg/l by Insulin.; basal IGFBP3 level 2.19µg/L, raised to 2.50µg/L after rgGH injections (6 days) - - Unknown - - - - - Johan den Dunnen 00079824
0000059538 short stature, idiopathic; Growth Hormone Insensitivity Syndrome; bone age was 13y at chronological age of 14.3y - - Unknown - - - - - Johan den Dunnen 00079827
0000059539 short stature, idiopathic - - Unknown - - - - - Johan den Dunnen 00079828
0000059575 short stature, idiopathic - - Familial - - - - - Johan den Dunnen 00079864
0000059629 - - - Familial, autosomal dominant - - - - - Xuyun Hu 00079994
0000059630 - - - Familial, autosomal dominant - - - - - Xuyun Hu 00079995
0000059631 - - - Familial, autosomal dominant - - - - - Xuyun Hu 00079997
0000061365 short stature of postnatal onset - - Unknown - - - - - Andreas Janecke 00081716
0000061367 see paper; ..., postnatal short stature, skeletal anomalies thorax, minor congenital heart defect, camptodactyly, minor further anomalies - - Familial, autosomal recessive - - - - - Johan den Dunnen 00081725
0000079011 see paper; 2 index cases had severe short stature (height SD score -4.1 and-4.6), microcephaly, low IGF-I levels; adult height and head circumference SD score carriers was -2.5 and -1.8 (-1.6 and 0.3 in non-carriers) - - Familial, autosomal dominant - - - - - Johan den Dunnen 00079752
0000079012 see paper; index case postnatal growth retardation (-4.0 height SDS), serum IGF-I concentration low (115 µg/l, -2.21 SDS) and increased minimally to 130 µg/l (-1.82 SDS) on GH therapy; severe short stature could be traced back several generations, ... - - Familial, autosomal dominant - - - - - Johan den Dunnen 00100794
0000079013 see paper; idiopathic short stature, ... - - Familial, autosomal dominant - - - - - Johan den Dunnen 00100795
0000079014 see paper; progressive growth failure, moderate microcephaly, thin long bones, mildly decreased bone density, elevated circulating total IGF-I, IGFBP-3, IGFBP-5, acid labile subunit and IGF-II concentrations, ... - - Familial, autosomal recessive - - - - - Johan den Dunnen 00100796
0000079015 see paper; progressive growth failure, moderate microcephaly, thin long bones, mildly decreased bone density, elevated circulating total IGF-I, IGFBP-3, IGFBP-5, acid labile subunit and IGF-II concentrations, ... - - Familial, autosomal recessive - - - - - Johan den Dunnen 00100797
0000087078 see paper; … - - Familial, autosomal dominant - - - - - Johan den Dunnen 00038381
0000087079 see paper; … - - Familial, autosomal dominant - - - - - Johan den Dunnen 00038382
0000087083 see paper; ... - - Familial, autosomal recessive - - - - - Irfan Ullah 00038383
0000087087 see paper; ... - - Familial, autosomal dominant - - - - - Irfan Ullah 00038722
0000087088 see paper; ... - - Familial, autosomal dominant - - - - - Johan den Dunnen 00038723
0000090738 short stature, idiopathic? (ISS?) - - Unknown - - - - - Ralph Roeth 00115258
0000090892 mild Dysproportion - - Familial - - - - - Ralph Roeth 00115412
0000090911 short stature, idiopathic? (ISS?) - - Familial - - - - - Ralph Roeth 00115431
0000090984 see paper; … - - Unknown 12y - - - - Johan den Dunnen 00115504
0000090998 see paper; … - - Unknown - - - - - Johan den Dunnen 00115518
0000091005 see paper; … - - Unknown - - - - - Johan den Dunnen 00115525
0000091008 see paper; … - - Unknown - - - - - Johan den Dunnen 00115528
0000091009 see paper; … - - Unknown - - - - - Johan den Dunnen 00115529
0000199335 (HP:0004322) Short stature short stature short stature and osteogenesis imperfecta, type I Familial, autosomal dominant 05y11m 06y? ? ? ? Wenjuan Qiu 00260782
0000199402 short stature (HP:0004322) - - Familial, autosomal dominant - - - - - Wenjuan Qiu 00260851
0000199421 see paper; ... short stature - Familial, autosomal dominant - - - - - Johan den Dunnen 00260887
0000199422 see paper; ... short stature - Familial, autosomal dominant - - - - - Johan den Dunnen 00260889
0000201927 typical clinical features hereditary pycnodysostosis, abnormal skeletal system, scoliosis, short stature, skeletal dysplasia, increased bone density, open sutures of anterior fontanelle, closed posterior fontanelle, history of developed easy fractures (3x), asymmetric skull, macrocephaly, short fingers with dysplastic nails, midface retrusion; dental abnormalities including severe crowding, poor oral hygiene, periodontal problems, delayed exfoliation primary teeth, eruption permanent teeth, enamel hypoplasia, obliteration pulp chambers, hypercementosis; radiographs exhibit very obtuse mandibular angle, general increase bone density, open fontanels and sutures pycnodysostosis PCND Familial, autosomal recessive 18y 18y 03y03m - - Ehsan Razmara 00264073
0000250702 see paper; ..., growth retardation - Familial - - - - - Johan den Dunnen 00332518
0000270212 see paper; ... short stature - Isolated (sporadic) 08y - - - - Johan den Dunnen 00375002
0000296421 see paper; ... short stature short stature Familial, autosomal recessive 12y - - - - Tess Holling 00403697
0000296422 see paper; ... short stature short stature Familial, autosomal recessive 16y - - - - Tess Holling 00403696
0000297171 see paper; ..., short stature short stature arginase deficiency Familial, autosomal recessive - - - - - Johan den Dunnen 00404587
0000352043 see paper; ..., small for gestational age; height SDS-4.32; birth weight SDS-1.64, length SDS-3.05 short stature - Familial, autosomal dominant 10y - - - - Johan den Dunnen 00466680
0000352044 see paper; ..., small for gestational age, central hypothyroidism; height SDS-4.1; birth weight SDS-1.64, length SDS-2.39 short stature - Familial, autosomal recessive 14y - - - - Johan den Dunnen 00466681
0000352045 see paper; ..., small for gestational age; height SDS-3.49; birth weight SDS-3.01, length SDS-3.87 short stature - Unknown 12y - - - - Johan den Dunnen 00466682
0000352046 see paper; ..., small for gestational age, advanced bone age (+1.9y); height SDS-3.42; birth weight SDS-1.62, length SDS-3.26 short stature - Unknown 10y - - - - Johan den Dunnen 00466683
0000352047 see paper; ..., small for gestational age; height SDS-3.34; birth weight SDS-2.13, length SDS-3.52 short stature - Unknown 9y - - - - Johan den Dunnen 00466684
0000352048 see paper; ..., small for gestational age, scoliosis; height SDS-3.06; birth weight SDS-2.39, length SDS-2.57 short stature - Familial, autosomal dominant 16y - - - - Johan den Dunnen 00466685
0000352049 see paper; ..., small for gestational age; height SDS-2.92; birth weight SDS-1.35, length SDS-2.13 short stature - Familial, autosomal dominant 10y - - - - Johan den Dunnen 00466686
0000352050 see paper; ..., small for gestational age, frequent otitis media acuta;, genua valga, advanced bone age (+3.4y); height SDS-2.76; birth weight SDS-2.56, length SDS-4.14 short stature - Familial, autosomal recessive 11y - - - - Johan den Dunnen 00466687
0000352051 see paper; ..., growth hormone deficiency, minor stigmata, bilateral cryptorchidism; height SDS-4.95; birth weight SDS-0.94, length SDS-1.78 short stature - Unknown 14y - - - - Johan den Dunnen 00466688
0000352052 see paper; ..., growth hormone deficiency, B-cell immunity disorder, skin problems (hyperkeratosis, alopecia), corneal ulceratio; height SDS-4.48; birth weight SDS-1.06, length SDS-1.75 short stature - Unknown 8y - - - - Johan den Dunnen 00466689
0000352053 see paper; ..., growth hormone deficiency, limb shortening; height SDS-4.37; birth weight SDS-0.56, length SDS-1.04 short stature - Familial, autosomal dominant 7y - - - - Johan den Dunnen 00466690
0000352054 see paper; ..., growth hormone deficiency, limb shortening; height SDS-3.5; birth weight SDS0.04, length SDS-0.95 short stature - Unknown 8y - - - - Johan den Dunnen 00466691
0000352055 see paper; ..., growth hormone deficiency; height SDS-3.1; birth weight SDS-0.85, length SDS-0.65 short stature - Unknown 13y - - - - Johan den Dunnen 00466692
0000352056 see paper; ..., growth hormone deficiency; height SDS-3.06; birth weight SDS-1.94, length SDS-1.42 short stature - Familial, autosomal dominant 5y - - - - Johan den Dunnen 00466693
0000352057 see paper; ..., growth hormone deficiency, minor stigmata; height SDS-3.04; birth weight SDS-1.57, length SDS-1.68 short stature - Unknown 9y - - - - Johan den Dunnen 00466694
0000352058 see paper; ..., growth hormone deficiency; height SDS-2.75; birth weight SDS-1.02, length SDS-1.35 short stature - Unknown 8y - - - - Johan den Dunnen 00466695
0000352059 see paper; ..., growth hormone deficiency; height SDS-2.53; birth weight SDS-1.6, length SDS-0.65 short stature - Unknown 12y - - - - Johan den Dunnen 00466696
0000352060 see paper; ..., small for gestational age, growth hormone deficiency, hypospadia, minor stigmata; height SDS-4.17; birth weight SDS-1.95, length SDS-3.09 short stature - Unknown 9y - - - - Johan den Dunnen 00466697
0000352061 see paper; ..., small for gestational age, growth hormone deficiency, limb shortening; height SDS-3.82; birth weight SDS-0.84, length SDS-2.14 short stature - Unknown 8y - - - - Johan den Dunnen 00466698
0000352062 see paper; ..., small for gestational age, growth hormone deficiency, microcephaly; height SDS-3.47; birth weight SDS-2.39, length SDS-3.00 short stature - Familial, autosomal recessive 14y - - - - Johan den Dunnen 00466699
0000352063 see paper; ..., small for gestational age, growth hormone deficiency; height SDS-3.26; birth weight SDS-2.18, length SDS-2.22 short stature - Unknown 13y - - - - Johan den Dunnen 00466700
0000352064 see paper; ..., small for gestational age, growth hormone deficiency, lower-limb shortening, minor stigmata; height SDS-3.18; birth weight SDS-2.56, length SDS-3.13 short stature - Familial, autosomal dominant 14y - - - - Johan den Dunnen 00466701
0000352065 see paper; ..., small for gestational age, growth hormone deficiency, minor stigmata; height SDS-2.84; birth weight SDS-2.59, length SDS-2.83 short stature - Unknown 8y - - - - Johan den Dunnen 00466702
0000352066 see paper; ..., small for gestational age, growth hormone deficiency; height SDS-2.7; birth weight SDS-2.39, length SDS-3.43 short stature - Unknown 10y - - - - Johan den Dunnen 00466703
0000352067 see paper; ..., small for gestational age, growth hormone deficiency; height SDS-2.62; birth weight SDS-1.4, length SDS-2.22 short stature - Familial, autosomal dominant 5y - - - - Johan den Dunnen 00466704
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