PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM

General Information (adopted from Orphanet):

Synonyms, Signs: PMRED
Number of Symptoms 37
OrphanetNr:
OMIM Id: 614501
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:0001999) Abnormal facial shape 169 / 7739
2
(HPO:0000158) Macroglossia 119 / 7739
3
(HPO:0000414) Bulbous nose 63 / 7739
4
(HPO:0000154) Wide mouth 137 / 7739
5
(HPO:0000666) Horizontal nystagmus 32 / 7739
6
(HPO:0000486) Strabismus 576 / 7739
7
(HPO:0002353) EEG abnormality 188 / 7739
8
(HPO:0001250) Seizures 1245 / 7739
9
(HPO:0001263) Global developmental delay 853 / 7739
10
(HPO:0001265) Hyporeflexia 208 / 7739
11
(HPO:0001182) Tapered finger 93 / 7739
12
(HPO:0004279) Short palm 323 / 7739
13
(HPO:0011304) Broad thumb 39 / 7739
14
(HPO:0001537) Umbilical hernia 206 / 7739
15
(HPO:0011968) Feeding difficulties 240 / 7739
16
(HPO:0001650) Aortic valve stenosis 49 / 7739
17
(HPO:0001647) Bicuspid aortic valve 34 / 7739
18
(HPO:0001602) Laryngeal stenosis 21 / 7739
19
(HPO:0001607) Subglottic stenosis 5 / 7739
20
(HPO:0001324) Muscle weakness 859 / 7739
21
(HPO:0001252) Muscular hypotonia 990 / 7739
22
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
23
(HPO:0010547) Muscle flaccidity 466 / 7739
24
(OMIM) Delayed psychomotor development, severe 14 / 7739
25
(HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
26
(Orphanet:3740) Enlargment of jaw/large jaw 3 / 7739
27
(OMIM) Lack of independent ambulation 6 / 7739
28
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
29
(OMIM) Lumpy skull surface 1 / 7739
30
(OMIM) Short, tapered fingers 1 / 7739
31
(HPO:0012802) Broad jaw 2 / 7739
32
(HPO:0002500) Abnormality of the cerebral white matter 73 / 7739
33
(OMIM) Irregular cortical ribbon 1 / 7739
34
(OMIM) Multifocal intractable seizures 1 / 7739
35
(HPO:0003429) CNS hypomyelination 21 / 7739
36
(HPO:0002119) Ventriculomegaly 253 / 7739
37
(OMIM) Lack of speech development 20 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Puffenberger et al. (2012) reported 3 Amish patients, including 2 brothers, with severe psychomotor retardation, intractable seizures, dysmorphic features, and a 'lumpy' skull surface. Patients were hypotonic and had poor feeding in the neonatal period. They had severe ...
Molecular genetics OMIM By homozygosity mapping followed by exome sequencing of Amish patients with severe psychomotor retardation, intractable seizures, and craniofacial dysmorphism, Puffenberger et al. (2012) identified a homozygous mutation in the SNIP1 gene (608241.0001). Six heterozygous carriers of this mutation ...