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

Official abbreviation -
Name Growth retardation with deafness and mental retardation due to IGF1 deficiency
OMIM ID 608747
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 9
Phenotype entries for this disease 9
Associated with 1 gene IGF1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

9 entries on 1 page. Showing entries 1 - 9.
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00079732 - PubMed: Fang 2007 {FILE17405847fam.jpg:pedigree} F - Austria white - - - - Growth retardation with deafness and mental retardation due to IGF1 deficiency insulin-like growth factor I deficiency; bone age 1.2y delayed; no conspicuous features of Laron syndrome GHR GHR 2 1 Johan den Dunnen
00079742 - PubMed: Godowski 1989 - F yes United States Jewish;Iraq - - - - Growth retardation with deafness and mental retardation due to IGF1 deficiency 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 GHR GHR 2 1 Johan den Dunnen
00079747 08857020 PubMed: Woods 1996, Journal: Woods 1996, Woods 2000 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes United Kingdom (Great Britain) - - - - - Growth retardation with deafness and mental retardation due to IGF1 deficiency 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, IGF1 IGF1 1 1 Hermine van Duyvenvoorde
00079748 14684690-Pat PubMed: Bonapace 2003, Concolino 2009 2-generation family, 1 affected, unaffected heterozygous carrier parent M - Italy Italy - - - - Growth retardation with deafness and mental retardation due to IGF1 deficiency intrauterine and postnatal growth failure, sensorineural deafness, mental retardation; insulin-like growth factor I deficiency; no skeletal abnormalities IGF1 IGF1 1 1 Hermine van Duyvenvoorde
00079749 15769976-FamPatIV8 PubMed: Walenkamp 2005, Journal: Walenkamp 2005 6-generation family, affected brothers, 9 heterozygous carrier parents/relatives {FILE15769976fam.ppt:pedigree}, {FILE15769976patRV.jpg:the patient}, {FILE15769976tab.jpg:protein levels} M yes Netherlands Netherlands - - - - Growth retardation with deafness and mental retardation due to IGF1 deficiency 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 IGF1 IGF1 1 11 Hermine van Duyvenvoorde
00079751 15769976-FamPatIV13 PubMed: Walenkamp 2005, Journal: Walenkamp 2005 - M yes Netherlands - - - - - Growth retardation with deafness and mental retardation due to IGF1 deficiency - IGF1 IGF1 1 1 Hermine van Duyvenvoorde
00079762 - - - F - Netherlands - - - - W.A. Ester et al, table 1 shows the changes before and after GH therapy Growth retardation with deafness and mental retardation due to IGF1 deficiency 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 IGF1R IGF1R 1 1 Patricia Willemse
00079766 - PubMed: Inagaki 2007 - F - Russian Federation Russian - - - - Growth retardation with deafness and mental retardation due to IGF1 deficiency 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 IGF1R IGF1R 1 1 Patricia Willemse
00079770 - PubMed: Fang 2007 father and sister-2 heterozygous for C94S. mother and sister-1 heterozygous for H150Q. F - Austria white - - - - Growth retardation with deafness and mental retardation due to IGF1 deficiency 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 GHR GHR 2 1 Johan den Dunnen
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