MCID: MNT298
MIFTS: 24

Mental Retardation, X-Linked, Syndromic, 35

Categories: Genetic diseases, Neuronal diseases, Bone diseases, Fetal diseases, Rare diseases, Mental diseases, Eye diseases, Cardiovascular diseases

Aliases & Classifications for Mental Retardation, X-Linked, Syndromic, 35

MalaCards integrated aliases for Mental Retardation, X-Linked, Syndromic, 35:

Name: Mental Retardation, X-Linked, Syndromic, 35 57 75 29 6
Mrxs35 57 75
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome 59
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome 59
Mental Retardation, X-Linked, Syndromic, Type 35 40
Syndromic X-Linked Mental Retardation 35 12

Characteristics:

Orphanet epidemiological data:

59
x-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
x-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
variable extraneurologic features


Classifications:



Summaries for Mental Retardation, X-Linked, Syndromic, 35

UniProtKB/Swiss-Prot : 75 Mental retardation, X-linked, syndromic, 35: A mental retardation syndrome characterized by intellectual deficit, delayed psychomotor development, poor speech, and dysmorphic features. Mental retardation is defined by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

MalaCards based summary : Mental Retardation, X-Linked, Syndromic, 35, is also known as mrxs35. An important gene associated with Mental Retardation, X-Linked, Syndromic, 35 is RPL10 (Ribosomal Protein L10). Affiliated tissues include bone and testes, and related phenotypes are finger syndactyly and seizures

Description from OMIM: 300998

Related Diseases for Mental Retardation, X-Linked, Syndromic, 35

Symptoms & Phenotypes for Mental Retardation, X-Linked, Syndromic, 35

Symptoms via clinical synopsis from OMIM:

57
Skeletal Hands:
clinodactyly
brachydactyly
camptodactyly
single palmar creases
tapered fingers

Skeletal Spine:
scoliosis
spondyloepiphyseal dysplasia

Abdomen Gastrointestinal:
gastroesophageal reflux

Skeletal Skull:
dolichocephaly

Growth Other:
intrauterine growth retardation
poor growth

Head And Neck Teeth:
dental crowding

Muscle Soft Tissue:
hypotonia

Head And Neck Ears:
prominent ears
hearing loss (in some patients)

Head And Neck Head:
microcephaly, progressive (variable, -2 to -9 sd)

Prenatal Manifestations Delivery:
premature delivery (35 to 38 weeks)

Neurologic Central Nervous System:
intellectual disability
delayed psychomotor development
seizures (in some patients)
cerebellar hypoplasia (in some patients)
ataxia (in some patients)
more
Growth Height:
short stature

Head And Neck Face:
long philtrum
microretrognathia
prognathism
flat philtrum

Genitourinary External Genitalia Male:
cryptorchidism
hypospadias
small testes

Head And Neck Eyes:
myopia
epicanthal folds

Head And Neck Nose:
broad nasal bridge

Head And Neck Mouth:
small mouth
thin upper lip

Prenatal Manifestations Amniotic Fluid:
increased amniotic fluid

Cardiovascular Heart:
septal defects (in some patients)


Clinical features from OMIM:

300998

Human phenotypes related to Mental Retardation, X-Linked, Syndromic, 35:

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0006101
2 seizures 59 32 obligate (100%) Obligate (100%) HP:0001250
3 muscular hypotonia 59 32 obligate (100%) Obligate (100%) HP:0001252
4 self-injurious behavior 59 32 frequent (33%) Frequent (79-30%) HP:0100716
5 mandibular prognathia 59 32 obligate (100%) Obligate (100%) HP:0000303
6 abnormal facial shape 59 32 obligate (100%) Obligate (100%) HP:0001999
7 microcephaly 59 32 obligate (100%) Obligate (100%) HP:0000252
8 sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000407
9 gastroesophageal reflux 59 32 obligate (100%) Obligate (100%) HP:0002020
10 laryngomalacia 59 32 frequent (33%) Frequent (79-30%) HP:0001601
11 cryptorchidism 59 32 obligate (100%) Obligate (100%) HP:0000028
12 protruding ear 59 32 frequent (33%) Frequent (79-30%) HP:0000411
13 hypospadias 59 32 frequent (33%) Frequent (79-30%) HP:0000047
14 dental crowding 59 32 frequent (33%) Frequent (79-30%) HP:0000678
15 recurrent infections 59 32 obligate (100%) Obligate (100%) HP:0002719
16 thin upper lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0000219
17 pulmonary artery stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0004415
18 branchial cyst 59 32 frequent (33%) Frequent (79-30%) HP:0009796
19 tapered finger 59 32 frequent (33%) Frequent (79-30%) HP:0001182
20 severe postnatal growth retardation 59 32 obligate (100%) Obligate (100%) HP:0008850
21 single transverse palmar crease 59 32 frequent (33%) Frequent (79-30%) HP:0000954
22 knee flexion contracture 59 32 frequent (33%) Frequent (79-30%) HP:0006380
23 camptodactyly 59 32 frequent (33%) Frequent (79-30%) HP:0012385
24 sacral lipoma 59 32 frequent (33%) Frequent (79-30%) HP:0012033
25 ankle contracture 59 32 frequent (33%) Frequent (79-30%) HP:0006466

Drugs & Therapeutics for Mental Retardation, X-Linked, Syndromic, 35

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked, Syndromic, 35

Genetic Tests for Mental Retardation, X-Linked, Syndromic, 35

Genetic tests related to Mental Retardation, X-Linked, Syndromic, 35:

# Genetic test Affiliating Genes
1 Mental Retardation, X-Linked, Syndromic, 35 29 RPL10

Anatomical Context for Mental Retardation, X-Linked, Syndromic, 35

MalaCards organs/tissues related to Mental Retardation, X-Linked, Syndromic, 35:

41
Bone, Testes

Publications for Mental Retardation, X-Linked, Syndromic, 35

Variations for Mental Retardation, X-Linked, Syndromic, 35

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, X-Linked, Syndromic, 35:

75
# Symbol AA change Variation ID SNP ID
1 RPL10 p.Ala64Val VAR_079288
2 RPL10 p.Lys78Glu VAR_079289

ClinVar genetic disease variations for Mental Retardation, X-Linked, Syndromic, 35:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RPL10 NM_006013.4(RPL10): c.232A> G (p.Lys78Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs1131692040 GRCh37 Chromosome X, 153628185: 153628185
2 RPL10 NM_006013.4(RPL10): c.232A> G (p.Lys78Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs1131692040 GRCh38 Chromosome X, 154399844: 154399844
3 RPL10 NM_006013.4(RPL10): c.481G> A (p.Gly161Ser) single nucleotide variant Pathogenic rs1131692041 GRCh37 Chromosome X, 153628956: 153628956
4 RPL10 NM_006013.4(RPL10): c.481G> A (p.Gly161Ser) single nucleotide variant Pathogenic rs1131692041 GRCh38 Chromosome X, 154400615: 154400615
5 RPL10 NM_006013.4(RPL10): c.191C> T (p.Ala64Val) single nucleotide variant Pathogenic rs1131692042 GRCh37 Chromosome X, 153628144: 153628144
6 RPL10 NM_006013.4(RPL10): c.191C> T (p.Ala64Val) single nucleotide variant Pathogenic rs1131692042 GRCh38 Chromosome X, 154399803: 154399803

Expression for Mental Retardation, X-Linked, Syndromic, 35

Search GEO for disease gene expression data for Mental Retardation, X-Linked, Syndromic, 35.

Pathways for Mental Retardation, X-Linked, Syndromic, 35

GO Terms for Mental Retardation, X-Linked, Syndromic, 35

Sources for Mental Retardation, X-Linked, Syndromic, 35

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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