X-linked intellectual disability with isolated growth hormone deficiency(MRGH)

MedGen UID:: 341145
•Concept ID:: C1848068
•: Disease or Syndrome

Synonym:	MRGH
Modes of inheritance:	X-linked recessive inheritance MedGen UID: 375779 •Concept ID: C1845977 • Finding Source: Orphanet A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. See: This record X-linked recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0019032
OMIM®:	300123; 313430
Orphanet:	ORPHA67045

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Etiology

Genetic forms of pituitary dwarfism.

Rimoin DL
Birth Defects Orig Artic Ser 1971 May;7(6):12-20. PMID: 4375505

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Clinical prediction guides

Neuronal 3',3,5-triiodothyronine (T3) uptake and behavioral phenotype of mice deficient in Mct8, the neuronal T3 transporter mutated in Allan-Herndon-Dudley syndrome.

Wirth EK, Roth S, Blechschmidt C, Hölter SM, Becker L, Racz I, Zimmer A, Klopstock T, Gailus-Durner V, Fuchs H, Wurst W, Naumann T, Bräuer A, de Angelis MH, Köhrle J, Grüters A, Schweizer U
J Neurosci 2009 Jul 29;29(30):9439-49. doi: 10.1523/JNEUROSCI.6055-08.2009. PMID: 19641107 Free PMC Article

X-linked mental retardation with isolated growth hormone deficiency is mapped to Xq22-Xq27.2 in one family.

Raynaud M, Ronce N, Ayrault AD, Francannet C, Malpuech G, Moraine C
Am J Med Genet 1998 Mar 19;76(3):255-61. PMID: 9508246

Familial X-linked mental retardation and isolated growth hormone deficiency: clinical and molecular findings.

Hamel BC, Smits AP, Otten BJ, van den Helm B, Ropers HH, Mariman EC
Am J Med Genet 1996 Jul 12;64(1):35-41. doi: 10.1002/(SICI)1096-8628(19960712)64:1<35::AID-AJMG5>3.0.CO;2-Q. PMID: 8826446

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X-linked intellectual disability with isolated growth hormone deficiency(MRGH)

Recent clinical studies

Etiology

Clinical prediction guides

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