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:
expandFacies (D019066)
Parent Node:
expandGrowth Disorders (D006130)
Parent Node:
expandHydrocephalus (D006849)
Parent Node:
expandMental Retardation, X-Linked (D038901)
Parent Node:
expandObesity (D009765)
..Starting node
..expandClark-Baraitser syndrome (C536208)

       Child Nodes:



 Sister Nodes: 
..expandADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2 (OMIM:606770)
..expandADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3 (OMIM:606771)
..expandAyazi syndrome (C537793)
..expandBiemond Syndrome II (C565902)
..expandBiemond syndrome type 2 (C535439)
..expandBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10 (OMIM:607514)
..expandBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 11 (OMIM:300306)
..expandBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12 (OMIM:612362)
..expandBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 13 (OMIM:612459)
..expandBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14 (OMIM:612460)
..expandBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4 (OMIM:607447)
..expandBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 7 (OMIM:608410)
..expandBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 8 (OMIM:603188)
..expandBODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9 (OMIM:602025)
..expandBorjeson-Forssman-Lehmann syndrome (C536575)
..expandCamera Marugo Cohen syndrome (C537964)
..expandClark-Baraitser syndrome (C536208)
..expandCohen syndrome (C536438)
..expandColoboma-Obesity-Hypogenitalism-Mental Retardation Syndrome (C566623)
..expandFASTING INSULIN LEVEL QUANTITATIVE TRAIT LOCUS 1 (OMIM:606035)
..expandMacrosomia obesity macrocephaly ocular abnormalities (C535812)
..expandMEHMO syndrome (C537451)
..expandMidface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia (C563896)
..expandMOMES Syndrome (C564660)
..expandMORM syndrome (C536984)
..expandObesity Hypoventilation Syndrome (D010845)
..expandObesity, Abdominal (D056128)
..expandObesity, Hyperphagia, and Developmental Delay (C563938)
..expandObesity, Morbid (D009767)
..expandPediatric Obesity (D063766)
..expandPrader-Willi Syndrome (D011218) Child2
..expandProlactin Deficiency with Obesity and Enlarged Testes (C564870)
..expandProopiomelanocortin Deficiency (C565726)
..expandProprotein Convertase 1 3 Deficiency (C563423)
..expandPROPROTEIN CONVERTASE 1/3 DEFICIENCY (OMIM:600955)
..expandShort Stature-Obesity Syndrome (C564821)
..expandVasquez Hurst Sotos syndrome (C536533)
..expandWilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome (C567292)
..expandWilson-Turner X-linked mental retardation syndrome (C536708)
..expandYoung Hughes syndrome (C536715)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:2415
Name:Clark-Baraitser syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D006130|MESH:D006849|MESH:D009765|MESH:D019066|MESH:D038901
TreeNumbers:C10.228.140.602/C536208 |C10.228.140.631.450/C536208 |C10.597.606.643.455/C536208 |C16.320.322.500/C536208 |C16.320.400.525/C536208 |C18.654.726.500/C536208 |C23.550.291.812/C536208 |C23.550.393/C536208 |C23.888.144.699.500/C536208
Synonyms:Baraitser Syndrome
Slim Mappings:Genetic disease (inborn)|Nervous system disease|Nutrition disorder|Pathology (process)|Signs and symptoms
Reference: MedGen: C536208
MeSH: C536208
OMIM: 300602;

Genes:
Phenotypes
1 HP:0001417X-linked inheritance
2 HP:0000455Broad nasal tip
3 HP:0001169Broad palm
4 HP:0000280Coarse facial features
5 HP:0000494Downslanted palpebral fissures
6 HP:0002711Exaggerated median tongue furrow
7 HP:0002007Frontal bossing
8 HP:0002816Genu recurvatum
9 HP:0002857Genu valgum
10 HP:0002054Heavy supraorbital ridges
11 HP:0001249Intellectual disability
12 HP:0001388Joint laxity
13 HP:0002808Kyphosis
14 HP:0000256Macrocephaly
15 HP:0000053Macroorchidism
16 HP:0001593Maxillary lateral incisor microdontia
17 HP:0001513Obesity
18 HP:0011220Prominent forehead
19 HP:0002708Prominent median palatal raphe
20 HP:0002650Scoliosis
21 HP:0001250Seizure
22 HP:0004279Short palm
23 HP:0000098Tall stature
24 HP:0001182Tapered finger
25 HP:0000179Thick lower lip vermilion
26 HP:0001566Widely-spaced maxillary central incisors
Disease Causing ClinVar Variants