Hypotonia-cerebral atrophy-hyperglycinemia syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MMDS3
Fatal multiple mitochondrial dysfunction syndrome type 3
Number of Symptoms 27
OrphanetNr: 363424
OMIM Id: 615330
ICD-10: G31.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 0.1 of 100 000 [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Fatal multiple mitochondrial dysfunction syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease
Neurometabolic disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly 832 / 7739
2
 (HPO:0000278) Retrognathia 100 / 7739
3
 (HPO:0000218) High palate 356 / 7739
4
 (HPO:0002705) High, narrow palate 308 / 7739
5
 (HPO:0001298) Encephalopathy 72 / 7739
6
 (HPO:0006610) Wide intermamillary distance 46 / 7739
7
 (HPO:0005684) Distal arthrogryposis 31 / 7739
8
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
9
 (HPO:0001371) Flexion contracture 220 / 7739
10
 (HPO:0001561) Polyhydramnios 191 / 7739
11
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
12
 (HPO:0003128) Lactic acidosis 116 / 7739
13
 (HPO:0001942) Metabolic acidosis 81 / 7739
14
 (HPO:0006829) Severe muscular hypotonia 29 / 7739
15
 (OMIM) Defects in mitochondria respiratory activities, mainly complexes I, II, and IV 1 / 7739
16
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
17
 (OMIM) Defects in lipoate-containing mitochondrial enzyme complexes 1 / 7739
18
 (HPO:0002059) Cerebral atrophy 171 / 7739
19
 (OMIM) Increased serum and CSF glycine 1 / 7739
20
 (OMIM) Absent primitive reflexes 1 / 7739
21
 (HPO:0002126) Polymicrogyria 64 / 7739
22
 (HPO:0002500) Abnormality of the cerebral white matter 73 / 7739
23
 (OMIM) Cortical cytotoxic edema 1 / 7739
24
 (OMIM) Increased serum and CSF lactate 7 / 7739
25
 (OMIM) Hypoplasia of the medulla oblongata 1 / 7739
26
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum 180 / 7739
27
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739

Associated genes:

IBA57;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Bolar et al. (2013) reported 2 sibs, born of consanguineous Moroccan parents, with a lethal encephalomyopathy and myopathy resulting from mitochondrial dysfunction. Prenatal ultrasound of both sibs showed intrauterine growth retardation, polyhydramnios, microcephaly, and dilated cerebral ventricles. At ...
Molecular genetics OMIM In 2 sibs, born of consanguineous Moroccan parents, with MMDS3, Bolar et al. (2013) identified a homozygous mutation in the IBA57 gene (Q314P; 615316.0001). The mutation was found by homozygosity mapping and candidate gene sequencing, and was not ...