MCID: XLN223
MIFTS: 15

X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability

Categories: Rare diseases

Aliases & Classifications for X-Linked Female Restricted Facial Dysmorphism-Short...

MalaCards integrated aliases for X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability:

Name: X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability 52
X-Linked Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability Syndrome Limited to Females 52
Female-Restricted X-Linked Syndromic Intellectual Disability-99 52

Classifications:



Summaries for X-Linked Female Restricted Facial Dysmorphism-Short...

MalaCards based summary : X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability, also known as x-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females, is related to mental retardation, x-linked 99, syndromic, female-restricted. Affiliated tissues include brain, thyroid and skin, and related phenotypes are global developmental delay and intellectual disability, moderate

Related Diseases for X-Linked Female Restricted Facial Dysmorphism-Short...

Diseases related to X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mental retardation, x-linked 99, syndromic, female-restricted 12.1

Symptoms & Phenotypes for X-Linked Female Restricted Facial Dysmorphism-Short...

Human phenotypes related to X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability:

31 (show top 50) (show all 81)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 hallmark (90%) HP:0001263
2 intellectual disability, moderate 31 hallmark (90%) HP:0002342
3 short stature 31 frequent (33%) HP:0004322
4 choanal atresia 31 frequent (33%) HP:0000453
5 infantile muscular hypotonia 31 frequent (33%) HP:0008947
6 dandy-walker malformation 31 frequent (33%) HP:0001305
7 anal atresia 31 frequent (33%) HP:0002023
8 hypoplasia of the corpus callosum 31 frequent (33%) HP:0002079
9 abnormal cortical gyration 31 frequent (33%) HP:0002536
10 depigmentation/hyperpigmentation of skin 31 frequent (33%) HP:0007483
11 postaxial polydactyly 31 frequent (33%) HP:0100259
12 brain atrophy 31 occasional (7.5%) HP:0012444
13 high palate 31 occasional (7.5%) HP:0000218
14 osteopenia 31 occasional (7.5%) HP:0000938
15 seizures 31 occasional (7.5%) HP:0001250
16 gingival overgrowth 31 occasional (7.5%) HP:0000212
17 hearing impairment 31 occasional (7.5%) HP:0000365
18 cataract 31 occasional (7.5%) HP:0000518
19 hip dysplasia 31 occasional (7.5%) HP:0001385
20 depressed nasal bridge 31 occasional (7.5%) HP:0005280
21 wide nasal bridge 31 occasional (7.5%) HP:0000431
22 pes planus 31 occasional (7.5%) HP:0001763
23 thick vermilion border 31 occasional (7.5%) HP:0012471
24 feeding difficulties 31 occasional (7.5%) HP:0011968
25 downslanted palpebral fissures 31 occasional (7.5%) HP:0000494
26 hallux valgus 31 occasional (7.5%) HP:0001822
27 hypoplasia of the brainstem 31 occasional (7.5%) HP:0002365
28 delayed puberty 31 occasional (7.5%) HP:0000823
29 brachycephaly 31 occasional (7.5%) HP:0000248
30 prominent forehead 31 occasional (7.5%) HP:0011220
31 cleft palate 31 occasional (7.5%) HP:0000175
32 long philtrum 31 occasional (7.5%) HP:0000343
33 narrow forehead 31 occasional (7.5%) HP:0000341
34 sacral dimple 31 occasional (7.5%) HP:0000960
35 neoplasm 31 occasional (7.5%) HP:0002664
36 strabismus 31 occasional (7.5%) HP:0000486
37 patent ductus arteriosus 31 occasional (7.5%) HP:0001643
38 respiratory distress 31 occasional (7.5%) HP:0002098
39 limitation of joint mobility 31 occasional (7.5%) HP:0001376
40 short foot 31 occasional (7.5%) HP:0001773
41 myopia 31 occasional (7.5%) HP:0000545
42 atrial septal defect 31 occasional (7.5%) HP:0001631
43 cardiomyopathy 31 occasional (7.5%) HP:0001638
44 pes cavus 31 occasional (7.5%) HP:0001761
45 congenital hip dislocation 31 occasional (7.5%) HP:0001374
46 joint laxity 31 occasional (7.5%) HP:0001388
47 telecanthus 31 occasional (7.5%) HP:0000506
48 cerebellar hypoplasia 31 occasional (7.5%) HP:0001321
49 small hand 31 occasional (7.5%) HP:0200055
50 thin upper lip vermilion 31 occasional (7.5%) HP:0000219

Drugs & Therapeutics for X-Linked Female Restricted Facial Dysmorphism-Short...

Search Clinical Trials , NIH Clinical Center for X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability

Genetic Tests for X-Linked Female Restricted Facial Dysmorphism-Short...

Anatomical Context for X-Linked Female Restricted Facial Dysmorphism-Short...

MalaCards organs/tissues related to X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability:

40
Brain, Thyroid, Skin

Publications for X-Linked Female Restricted Facial Dysmorphism-Short...

Variations for X-Linked Female Restricted Facial Dysmorphism-Short...

Expression for X-Linked Female Restricted Facial Dysmorphism-Short...

Search GEO for disease gene expression data for X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability.

Pathways for X-Linked Female Restricted Facial Dysmorphism-Short...

GO Terms for X-Linked Female Restricted Facial Dysmorphism-Short...

Sources for X-Linked Female Restricted Facial Dysmorphism-Short...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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