Phenotypes for disease #00808 (Growth retardation with deafness and mental retardation due to IGF1 deficiency, OMIM:608747)

9 entries on 1 page. Showing entries 1 - 9.
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Phenotype/Onset     

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Individual ID     
0000059443 insulin-like growth factor I deficiency; bone age 1.2y delayed; no conspicuous features of Laron syndrome - - Isolated (sporadic) - - - - - Johan den Dunnen 00079732
0000059453 insulin-like growth factor I deficiency, Laron syndrome; typical features of GH deficiency at the age of 6. After 5 days of GH treatment there was no increase in the plasma IGF-1 level. At the age of 8.10y showed no serum GH binding protein activity - - Familial, autosomal recessive - - - - - Johan den Dunnen 00079742
0000059458 severe pre- and postnatal growth failure, sensorineural deafness, mental retardation; insulin-like growth factor I deficiency; mild myopia; behavioral difficulties, hyperactivity, short attention span; no skeletal abnormalities; micrognathia, bilateral ptosis,; low hearline, bilateral clinodactyly, single palmar crease, - - Familial, autosomal recessive - - - - - Hermine van Duyvenvoorde 00079747
0000059459 intrauterine and postnatal growth failure, sensorineural deafness, mental retardation; insulin-like growth factor I deficiency; no skeletal abnormalities - - Unknown - - - - - Hermine van Duyvenvoorde 00079748
0000059460 severe intrauterine growth retardation, deafness, mental retardation, osteoporosis, partial gonadal dysfunction, relatively well-preserved cardiac function; insulin-like growth factor I deficiency; neurology normal; right radial fracture after minor trauma; no skeletal abnormalities; deep-set eyes, flat occiput, micrognathia; broad end phalanges, convex nails, hypermobility interphalangeal joints, restricted mobility elbows - - Unknown - - - - - Hermine van Duyvenvoorde 00079749
0000059473 insulin-like growth factor I deficiency; neurology normal; Bilateral hearing loss, hyperlaxity of joints; Dimples in lumbar region; Triangular face, low placed posterior rotated ears, medial flaring eyebrows; Hypertelorsim, bilateral clinodactyly; delayed dentition and hypocanthal folds - - Isolated (sporadic) - - - - - Patricia Willemse 00079762
0000059477 insulin-like growth factor I deficiency; Triangular shape of face; Small hands and feet; younger brother birth length 50cm, birth weight 3000g, height 86cm (-1.2) at 2.5 y; aunt height 128cm (-5.7), menarche at 13y; several maternal siblings died in neonatal period due to unknown causes - - Familial - - - - - Patricia Willemse 00079766
0000059481 IGF-I level failed to increase after IGF generation test, no response to GH treatment; IGF-I therapy at 6.5y, height increased from -4.9SDS to -3.8SDS; insulin-like growth factor I deficiency; delayed bone age of 2.5y; Mild midfacial hypoplasia, depressed nasal bridge; Moderate frontal bossing, small hands - - Isolated (sporadic) - - - - - Johan den Dunnen 00079770
0000079008 - - - Familial, autosomal recessive - - - - - Hermine van Duyvenvoorde 00079751
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