Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandMalformations of Cortical Development (D054220)
Parent Node:
expandMental Retardation, X-Linked (D038901)
Parent Node:
expandMicrocephaly (D008831)
Parent Node:
expandThinness (D013851)
..Starting node
..expandCK SYNDROME (OMIM:300831)

       Child Nodes:



 Sister Nodes: 
..expandCK SYNDROME (OMIM:300831)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:2414
Name:CK SYNDROME
Definition:
Alternative IDs:
ParentIDs:MESH:D008831|MESH:D013851|MESH:D038901|MESH:D054220
TreeNumbers:C05.660.207.620/300831 |C10.500.507/300831 |C10.500.507.400.500/300831 |C10.597.606.643.455/300831 |C16.131.621.207.620/300831 |C16.131.666.507/300831 |C16.131.666.507.400.500/300831 |C16.320.322.500/300831 |C16.320.400.525/300831 |C23.888.144.828/300831
Synonyms:MENTAL RETARDATION, X-LINKED, WITH THIN BODY HABITUS AND CORTICAL MALFORMATION
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference: MedGen: 300831
MeSH: 300831
OMIM: 300831;

Genes: NSDHL;
Phenotypes
1 HP:0001419X-linked recessive inheritance
2 HP:0003103Abnormal cortical bone morphology
3 HP:0011297Abnormal digit morphology
4 HP:0000718Aggressive behavior
5 HP:0007874Almond-shaped palpebral fissure
6 HP:0000750Delayed speech and language development
7 HP:0000678Dental crowding
8 HP:0000286Epicanthus
9 HP:0001290Generalized hypotonia
10 HP:0001263Global developmental delay
11 HP:0000218High palate
12 HP:0000752Hyperactivity
13 HP:0003307Hyperlordosis
14 HP:0001249Intellectual disability
15 HP:0000737Irritability
16 HP:0001382Joint hypermobility
17 HP:0002808Kyphosis
18 HP:0000276Long face
19 HP:0000272Malar flattening
20 HP:0000252Microcephaly
21 HP:0000347Micrognathia
22 HP:0000275Narrow face
23 HP:0001302Pachygyria
24 HP:0002126Polymicrogyria
25 HP:0000358Posteriorly rotated ears
26 HP:0000426Prominent nasal bridge
27 HP:0000278Retrognathia
28 HP:0002650Scoliosis
29 HP:0001250Seizure
30 HP:0002360Sleep disturbance
31 HP:0001533Slender build
32 HP:0000486Strabismus
33 HP:0000582Upslanted palpebral fissure
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_001129765.1(NSDHL):c.696_698delGAA (p.Lys232del)50814NSDHLPathogenic121909833RCV000020430; NMedGen:C3151781,OMIM:300831,ORPHA:251383X152036124152036126NM_001129765.1:c.696_698delGAANP_001123237.1:p.Lys232delNC_000023.10:g.152036124_152036126delGAAOMIM Allelic Variant:300275.0008C3151781 300831 NSDHL-Related Disorders
NM_001129765.1(NSDHL):c.1098dupT (p.Arg367Serfs)50814NSDHLPathogenic121909834RCV000020428; NMedGen:C3151781,OMIM:300831,ORPHA:251383X152037636152037636NM_001129765.1:c.1098dupTNP_001123237.1:p.Arg367SerfsNC_000023.10:g.152037636dupTOMIM Allelic Variant:300275.0007C3151781 300831 NSDHL-Related Disorders