MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 26
OrphanetNr:
OMIM Id: 613668
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0005484) Postnatal microcephaly 32 / 7739
2
(HPO:0000253) Progressive microcephaly 37 / 7739
3
(HPO:0002169) Clonus 37 / 7739
4
(HPO:0002521) Hypsarrhythmia 43 / 7739
5
(HPO:0001347) Hyperreflexia 363 / 7739
6
(HPO:0001263) Global developmental delay 853 / 7739
7
(HPO:0002015) Dysphagia 301 / 7739
8
(HPO:0002353) EEG abnormality 188 / 7739
9
(HPO:0001257) Spasticity 251 / 7739
10
(HPO:0001250) Seizures 1245 / 7739
11
(HPO:0011968) Feeding difficulties 240 / 7739
12
(HPO:0001508) Failure to thrive 454 / 7739
13
(HPO:0003676) Progressive disorder 148 / 7739
14
(OMIM) Poor myelination 2 / 7739
15
(OMIM) Cerebral atrophy, diffuse, severe 1 / 7739
16
(HPO:0002506) Diffuse cerebral atrophy 9 / 7739
17
(OMIM) Multifocal spike and wave activity 1 / 7739
18
(OMIM) Diffuse slowing of background 1 / 7739
19
(OMIM) Poor visual fixation 4 / 7739
20
(OMIM) Thin brainstem 1 / 7739
21
(OMIM) Developmental retardation, severe 2 / 7739
22
(OMIM) Lack of visual tracking 1 / 7739
23
(OMIM) Cerebellar atrophy, diffuse, severe 1 / 7739
24
(OMIM) Small thalami 1 / 7739
25
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
26
(OMIM) Truncal arching 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kaufmann et al. (2010) reported 5 infants from 4 Jewish families from the Caucasus region with postnatal progressive microcephaly and severe developmental retardation associated with cerebral and cerebellar atrophy. One of the families was consanguineous. All pregnancies were ...
Molecular genetics OMIM By candidate gene sequencing of 5 patients from 4 families with postnatal progressive microcephaly, seizures, and brain atrophy, Kaufmann et al. (2010) identified a homozygous mutation in the MED17 gene (L371P; 603810.0001). Screening of additional patients with a ...
Population genetics OMIM All patients with infantile postnatal microcephaly, seizures, and brain atrophy, Kaufmann et al. (2010) were of Caucasus Jewish origin and were found to have the same homozygous mutation (L371P; 603810.0001) in the MED17 gene, suggesting a founder effect. ...