Microcephaly - seizures - developmental delay

General Information (adopted from Orphanet):

Synonyms, Signs: MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY
EIEE10
MCSZ
Number of Symptoms 21
OrphanetNr: 228418
OMIM Id: 613402
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Monogenic disease with epilepsy
 -Rare genetic disease
 -Rare neurologic disease
Syndrome with microcephaly as major feature
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000253) Progressive microcephaly 37 / 7739
2
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
3
 (HPO:0001265) Hyporeflexia rare [HPO:skoehler] 208 / 7739
4
 (HPO:0010864) Intellectual disability, severe 120 / 7739
5
 (HPO:0001251) Ataxia rare [HPO:skoehler] 413 / 7739
6
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
7
 (HPO:0000708) Behavioral abnormality Frequent [Orphanet] 212 / 7739
8
 (HPO:0200134) Epileptic encephalopathy 42 / 7739
9
 (HPO:0001270) Motor delay 322 / 7739
10
 (HPO:0000752) Hyperactivity Frequent [Orphanet] 140 / 7739
11
 (HPO:0001252) Muscular hypotonia 990 / 7739
12
 (HPO:0003202) Skeletal muscle atrophy 281 / 7739
13
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
14
 (OMIM) Simplified gyral pattern 11 / 7739
15
 (OMIM) Patient cells show defective DNA repair in response to irradiation and free radical damage 1 / 7739
16
 (HPO:0002119) Ventriculomegaly 253 / 7739
17
 (HPO:0009879) Cortical gyral simplification 24 / 7739
18
 (OMIM) Lack of speech or only a few works 1 / 7739
19
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
20
 (OMIM) Seizures, refractory, infantile-onset 2 / 7739
21
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Shen et al. (2010) reported 6 unrelated kindreds, including 3 consanguineous families of Arabic Palestinian origin and 1 each of Arabic, Turkish, and mixed European ancestry, with microcephaly, infantile-onset seizures, and development delay, which the authors abbreviated as ...
Molecular genetics OMIM By genomewide linkage analysis followed by candidate gene sequencing of a region on chromosome 19q13 in families with EIEE10, Shen et al. (2010) identified homozygous or compound heterozygous mutations in the PNKP gene (605610.0001-605610.0004), resulting in a loss ...