RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL

General Information (adopted from Orphanet):

Synonyms, Signs: RMFSL
Number of Symptoms 31
OrphanetNr:
OMIM Id: 614498
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:0000347) Micrognathia rare [HPO:skoehler] 426 / 7739
2
(HPO:0000252) Microcephaly 832 / 7739
3
(HPO:0000648) Optic atrophy rare [HPO:skoehler] 238 / 7739
4
(HPO:0002459) Dysautonomia 34 / 7739
5
(HPO:0002169) Clonus 37 / 7739
6
(HPO:0002123) Generalized myoclonic seizures 62 / 7739
7
(HPO:0001263) Global developmental delay 853 / 7739
8
(HPO:0003739) Myoclonic spasms 7 / 7739
9
(HPO:0001276) Hypertonia 317 / 7739
10
(HPO:0003487) Babinski sign 179 / 7739
11
(HPO:0002063) Rigidity 92 / 7739
12
(HPO:0001371) Flexion contracture 220 / 7739
13
(HPO:0001662) Bradycardia 41 / 7739
14
(HPO:0002104) Apnea 106 / 7739
15
(OMIM) Seizures, continuous, refractory 1 / 7739
16
(OMIM) Background slowing 1 / 7739
17
(OMIM) Lack of volitional movement 1 / 7739
18
(OMIM) Depressed frontal bones 1 / 7739
19
(OMIM) Astrogliosis 3 / 7739
20
(OMIM) Small or absent fontanels 1 / 7739
21
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
22
(HPO:0002171) Gliosis 48 / 7739
23
(OMIM) Corticobasal degeneration 1 / 7739
24
(OMIM) Rigidity, axial and limb 1 / 7739
25
(OMIM) Episodic myoclonic spasms 1 / 7739
26
(HPO:0002529) Neuronal loss in central nervous system 37 / 7739
27
(HPO:0012448) Delayed myelination rare [HPO:skoehler] 51 / 7739
28
(OMIM) Overlapping cranial sutures 1 / 7739
29
(OMIM) Neuronal loss in the striatum and cerebral cortex 1 / 7739
30
(OMIM) Multifocal seizures 2 / 7739
31
(OMIM) EEG shows high voltage spikes over the temporal and central regions 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Puffenberger et al. (2012) reported 3 patients from 3 different Amish sibships in Pennsylvania with a lethal neonatal neurologic disorder. Episodic jerking was apparent in utero. At birth, affected individuals had small heads (1.5-2.0 SD below normal), overlapping ...
Molecular genetics OMIM By homozygosity mapping followed by exome sequencing of 2 Amish patients from Pennsylvania with lethal neonatal rigidity and multifocal seizure syndrome, Puffenberger et al. (2012) identified a homozygous truncating mutation in the BRAT1 gene (614506.0001). Two unrelated Old ...