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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Fetal Growth Retardation (D005317)
Parent Node: Genetic Diseases, X-Linked (D040181)
Parent Node: Limb Deformities, Congenital (D017880)
Parent Node: Pterygium (D011625)
..Starting node ..Fetal akinesia syndrome, X-linked (C537921)
Child Nodes:
Sister Nodes:
..Fetal akinesia syndrome, X-linked (C537921)
..Haspeslagh Fryns Muelenaere syndrome (C535844)
..Powell Chandra Saal syndrome (C538357)
..Pterygium colli mental retardation digital anomalies (C535831)
..Pterygium Of Conjunctiva And Cornea (C566740)
..Rubinstein Taybi like syndrome (C535877)
..Thompson Baraitser syndrome (C536515)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4246

Name:

Fetal akinesia syndrome, X-linked

Definition:

Alternative IDs:

ParentIDs:

MESH:D005317|MESH:D011625|MESH:D017880|MESH:D040181

TreeNumbers:

C05.660.585/C537921 |C11.187.781/C537921 |C13.703.277.370/C537921 |C16.131.621.585/C537921 |C16.300.390/C537921 |C16.320.322/C537921 |C23.550.393.450/C537921

Synonyms:

Brain malformation, growth retardation, hypokinesia and polyhydramnios |Fetal akinesia syndrome X-linked |Holmes Benacerraf syndrome |X-linked form of fetal akinesia syndrome

Slim Mappings:

Reference:

MedGen: C537921
MeSH: C537921
OMIM: 300073;

Genes:

Phenotypes

1	HP:0001417	X-linked inheritance
2	HP:0001274	Agenesis of corpus callosum
3	HP:0002139	Arrhinencephaly
4	HP:0000581	Blepharophimosis
5	HP:0001989	Fetal akinesia sequence
6	HP:0002375	Hypokinesia
7	HP:0001561	Polyhydramnios
8	HP:0003826	Stillbirth
9	HP:0000506	Telecanthus

Disease Causing ClinVar Variants