| Disease Browser
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Parent Node:
 Growth Disorders (D006130) | Parent Node:
Hypogonadism (D007006) | Parent Node:
Mental Retardation, X-Linked (D038901) | Parent Node:
Muscular Atrophy (D009133) | Parent Node:
Tremor (D014202) | ..Starting node
.. MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT (OMIM:300354)
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Child Nodes:
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Sister Nodes: | ..Fragile X Tremor Ataxia Syndrome (C564105)
| ..Geniospasm (C537682)
| ..MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT (OMIM:300354)
| ..Primary orthostatic tremor (C536418)
| ..Tremor hereditary essential, 2 (C536546)
| ..Tremor of Intention, Ataxia, and Lipofuscinosis (C566038)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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| Term ID: | 7076 |
| Name: | MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT |
| Definition: | |
| Alternative IDs: | |
| ParentIDs: | MESH:D006130|MESH:D007006|MESH:D009133|MESH:D014202|MESH:D038901 |
| TreeNumbers: | C10.597.350.850/300354 |C10.597.606.643.455/300354 |C10.597.613.612/300354 |C16.320.322.500/300354 |C16.320.400.525/300354 |C19.391.482/300354 |C23.300.070.500/300354 |C23.550.393/300354 |C23.888.592.350.850/300354 |C23.888.592.608.612/300354 |
| Synonyms: | CABEZAS SYNDROME |CABEZAS X-LINKED MENTAL RETARDATION SYNDROME |MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 |MRXS15 |MRXSC |
| Slim Mappings: | Endocrine system disease|Genetic disease (inborn)|Nervous system disease|Pathology (anatomical condition)|Pathology (process)|Signs and symptoms |
| Reference: |
MedGen: 300354
MeSH: 300354
OMIM: 300354;
Genes: CUL4B; | | Phenotypes | | | Disease Causing ClinVar Variants | | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | | NM_003588.3(CUL4B):c.1906+1G>T | 8450 | CUL4B | Pathogenic | 797044862 | RCV000190824; | N | Gene:114890,MedGen:C1845861,OMIM:300354,ORPHA:85293 | X | 119672514 | 119672514 | NM_003588.3:c.1906+1G>T | | | OMIM Allelic Variant:300304.0005 | C1845861 300354 Syndromic X-linked mental retardation, Cabezas type | | | | NM_003588.3(CUL4B):c.1714C>T (p.Arg572Cys) | 8450 | CUL4B | Pathogenic | 121434615 | RCV000012091; | N | Gene:114890,MedGen:C1845861,OMIM:300354,ORPHA:85293 | X | 119673204 | 119673204 | NM_003588.3:c.1714C>T | NP_003579.3:p.Arg572Cys | NC_000023.10:g.119673204G>A | OMIM Allelic Variant:300304.0001 | C1845861 300354 Syndromic X-linked mental retardation, Cabezas type | | | | NM_003588.3(CUL4B):c.1162C>T (p.Arg388Ter) | 8450 | CUL4B | Pathogenic | 121434616 | RCV000012092; | N | Gene:114890,MedGen:C1845861,OMIM:300354,ORPHA:85293 | X | 119678034 | 119678034 | NM_003588.3:c.1162C>T | NP_003579.3:p.Arg388Ter | NC_000023.10:g.119678034G>A | OMIM Allelic Variant:300304.0002 | C1845861 300354 Syndromic X-linked mental retardation, Cabezas type | | | | NM_003588.3(CUL4B):c.901-2A>G | 8450 | CUL4B | Pathogenic | 786200913 | RCV000012093; | N | Gene:114890,MedGen:C1845861,OMIM:300354,ORPHA:85293 | X | 119679374 | 119679374 | NM_003588.3:c.901-2A>G | | NC_000023.10:g.119679374T>C | OMIM Allelic Variant:300304.0003 | C1845861 300354 Syndromic X-linked mental retardation, Cabezas type | | | | NM_003588.3(CUL4B):c.149C>T (p.Pro50Leu) | 8450 | CUL4B | Pathogenic | 869320682 | RCV000190825; | N | Gene:114890,MedGen:C1845861,OMIM:300354,ORPHA:85293 | X | 119694399 | 119694399 | NM_003588.3:c.149C>T | NP_003579.3:p.Pro50Leu | NC_000023.10:g.119694399G>A | OMIM Allelic Variant:300304.0006 | C1845861 300354 Syndromic X-linked mental retardation, Cabezas type | | |
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