Fetal akinesia-cerebral and retinal hemorrhage syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MYOPATHY, CENTRONUCLEAR, LETHAL, AUTOSOMAL RECESSIVE
LCCS5
Number of Symptoms 24
OrphanetNr: 363409
OMIM Id: 615368
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital myopathy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000573) Retinal hemorrhage 13 / 7739
2
 (HPO:0001284) Areflexia 198 / 7739
3
 (HPO:0000762) Decreased nerve conduction velocity 36 / 7739
4
 (HPO:0001371) Flexion contracture 220 / 7739
5
 (HPO:0000883) Thin ribs 31 / 7739
6
 (HPO:0001558) Decreased fetal movement 74 / 7739
7
 (HPO:0001561) Polyhydramnios 191 / 7739
8
 (HPO:0001518) Small for gestational age 107 / 7739
9
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
10
 (HPO:0002093) Respiratory insufficiency 410 / 7739
11
 (HPO:0003687) Centrally nucleated skeletal muscle fibers 15 / 7739
12
 (HPO:0001252) Muscular hypotonia 990 / 7739
13
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
14
 (HPO:0010547) Muscle flaccidity 466 / 7739
15
 (HPO:0001324) Muscle weakness 859 / 7739
16
 (HPO:0003577) Congenital onset 133 / 7739
17
 (OMIM) Lack of spontaneous movement 1 / 7739
18
 (OMIM) Small rounded fibers 1 / 7739
19
 (OMIM) Muscle biopsy shows atrophic fibers 1 / 7739
20
 (HPO:0001522) Death in infancy 275 / 7739
21
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
22
 (OMIM) Thin bones 1 / 7739
23
 (OMIM) Intracranial bleeding 4 / 7739
24
 (OMIM) EMG may show myopathic features 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Koutsopoulos et al. (2013) reported 3 sibs, born of consanguineous Pakistani parents, with a lethal congenital neuromuscular syndrome. All exhibited decreased fetal movements, polyhydramnios, and decreased birth weight. At birth, all showed severe hypotonia with respiratory insufficiency, lack ...
Molecular genetics OMIM In 3 sibs, born of consanguineous Pakistani parents, with a lethal congenital contracture syndrome, Koutsopoulos et al. (2013) identified a homozygous missense mutation in the DNM2 gene (F379V; 602378.0013). The mutation, which was found by homozygosity mapping followed ...