MCID: FTL066
MIFTS: 14

Fetal Akinesia Syndrome, X-Linked

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Fetal Akinesia Syndrome, X-Linked

MalaCards integrated aliases for Fetal Akinesia Syndrome, X-Linked:

Name: Fetal Akinesia Syndrome, X-Linked 56
Polyhydramnios, Hypokinesia, Brain Malformations, Telecanthus, and Narrow Palpebral Fissures 52
X-Linked Form of Fetal Akinesia Syndrome 52
Fetal Akinesia Syndrome X-Linked 52

Characteristics:

OMIM:

56
Inheritance:
x-linked


HPO:

31
fetal akinesia syndrome, x-linked:
Clinical modifier stillbirth
Inheritance x-linked inheritance


Classifications:



Summaries for Fetal Akinesia Syndrome, X-Linked

MalaCards based summary : Fetal Akinesia Syndrome, X-Linked, is also known as polyhydramnios, hypokinesia, brain malformations, telecanthus, and narrow palpebral fissures. Affiliated tissues include brain, and related phenotypes are agenesis of corpus callosum and polyhydramnios

More information from OMIM: 300073

Related Diseases for Fetal Akinesia Syndrome, X-Linked

Symptoms & Phenotypes for Fetal Akinesia Syndrome, X-Linked

Human phenotypes related to Fetal Akinesia Syndrome, X-Linked:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 31 HP:0001274
2 polyhydramnios 31 HP:0001561
3 fetal akinesia sequence 31 HP:0001989
4 telecanthus 31 HP:0000506
5 arrhinencephaly 31 HP:0002139
6 blepharophimosis 31 HP:0000581
7 hypokinesia 31 HP:0002375
8 narrow palpebral fissure 31 HP:0045025

Symptoms via clinical synopsis from OMIM:

56
Misc:
polyhydramnios
stillborn or neonatal death

Neuro:
hypokinesia
arhinencephaly
absence of corpus callosum
fetal akinesia

Eyes:
telecanthus
narrow palpebral fissures

Clinical features from OMIM:

300073

Drugs & Therapeutics for Fetal Akinesia Syndrome, X-Linked

Search Clinical Trials , NIH Clinical Center for Fetal Akinesia Syndrome, X-Linked

Genetic Tests for Fetal Akinesia Syndrome, X-Linked

Anatomical Context for Fetal Akinesia Syndrome, X-Linked

MalaCards organs/tissues related to Fetal Akinesia Syndrome, X-Linked:

40
Brain

Publications for Fetal Akinesia Syndrome, X-Linked

Articles related to Fetal Akinesia Syndrome, X-Linked:

# Title Authors PMID Year
1
New syndrome: brain malformation, growth retardation, hypokinesia and polyhydramnios in two brothers. 56
9018412 1997
2
Pena-Shokeir phenotype in sibs with macrocephaly but without growth retardation. 56
2672815 1989
3
Prenatal diagnosis of Pena-Shokeir syndrome type 1. 56
3893126 1985

Variations for Fetal Akinesia Syndrome, X-Linked

Expression for Fetal Akinesia Syndrome, X-Linked

Search GEO for disease gene expression data for Fetal Akinesia Syndrome, X-Linked.

Pathways for Fetal Akinesia Syndrome, X-Linked

GO Terms for Fetal Akinesia Syndrome, X-Linked

Sources for Fetal Akinesia Syndrome, X-Linked

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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