CLARK-BARAITSER SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: BARAITSER SYNDROME
Number of Symptoms 31
OrphanetNr:
OMIM Id: 300602
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000053) Macroorchidism 18 / 7739
2
(HPO:0011220) Prominent forehead 137 / 7739
3
(HPO:0000280) Coarse facial features 189 / 7739
4
(HPO:0012471) Thick vermilion border 115 / 7739
5
(HPO:0001566) Widely-spaced maxillary central incisors 15 / 7739
6
(HPO:0000494) Downslanted palpebral fissures 328 / 7739
7
(HPO:0001593) Maxillary lateral incisor microdontia 2 / 7739
8
(HPO:0000179) Thick lower lip vermilion 72 / 7739
9
(HPO:0002054) Heavy supraorbital ridges 2 / 7739
10
(HPO:0000455) Broad nasal tip 67 / 7739
11
(HPO:0002711) Exaggerated median tongue furrow 2 / 7739
12
(HPO:0002007) Frontal bossing 366 / 7739
13
(HPO:0000691) Microdontia 104 / 7739
14
(HPO:0000256) Macrocephaly 298 / 7739
15
(HPO:0002708) Prominent median palatal raphe 4 / 7739
16
(HPO:0000463) Anteverted nares 305 / 7739
17
(HPO:0001250) Seizures 1245 / 7739
18
(HPO:0001249) Intellectual disability 1089 / 7739
19
(HPO:0001169) Broad palm 43 / 7739
20
(HPO:0002808) Kyphosis 289 / 7739
21
(HPO:0002816) Genu recurvatum 30 / 7739
22
(HPO:0001182) Tapered finger 93 / 7739
23
(HPO:0001388) Joint laxity 117 / 7739
24
(HPO:0002650) Scoliosis 705 / 7739
25
(HPO:0004279) Short palm 323 / 7739
26
(HPO:0002857) Genu valgum 144 / 7739
27
(HPO:0000098) Tall stature 74 / 7739
28
(HPO:0001513) Obesity 172 / 7739
29
(OMIM) Broad, short hands 14 / 7739
30
(HPO:0001417) X-linked inheritance 173 / 7739
31
(OMIM) Mental retardation, moderate to severe 20 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: