MENTAL RETARDATION, AUTOSOMAL DOMINANT 13

General Information (adopted from Orphanet):

Synonyms, Signs: MENTAL RETARDATION, AUTOSOMAL DOMINANT, 13, WITH NEURONAL MIGRATION DEFECTS
MRD13
Number of Symptoms 33
OrphanetNr:
OMIM Id: 614563
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001357) Plagiocephaly 106 / 7739
2
(HPO:0000494) Downslanted palpebral fissures 328 / 7739
3
(HPO:0000252) Microcephaly 832 / 7739
4
(HPO:0011220) Prominent forehead 137 / 7739
5
(HPO:0002197) Generalized seizures 30 / 7739
6
(HPO:0001265) Hyporeflexia 208 / 7739
7
(HPO:0001284) Areflexia 198 / 7739
8
(HPO:0001250) Seizures 1245 / 7739
9
(HPO:0001288) Gait disturbance 318 / 7739
10
(HPO:0002510) Spastic tetraplegia 3/8 [HPO:probinson] 54 / 7739
11
(HPO:0001315) Reduced tendon reflexes 160 / 7739
12
(HPO:0007359) Focal seizures 27 / 7739
13
(HPO:0003477) Peripheral axonal neuropathy rare [HPO:skoehler] 62 / 7739
14
(HPO:0001249) Intellectual disability 1089 / 7739
15
(HPO:0001838) Rocker bottom foot 85 / 7739
16
(HPO:0001763) Pes planus 176 / 7739
17
(HPO:0001822) Hallux valgus 70 / 7739
18
(HPO:0001765) Hammertoe 63 / 7739
19
(HPO:0001761) Pes cavus 225 / 7739
20
(HPO:0200055) Small hand rare [HPO:skoehler] 71 / 7739
21
(HPO:0001760) Abnormality of the foot rare [HPO:skoehler] 96 / 7739
22
(HPO:0001252) Muscular hypotonia 990 / 7739
23
(HPO:0002365) Hypoplasia of the brainstem rare [HPO:skoehler] 41 / 7739
24
(OMIM) [DEL]Autistic features 43 / 7739
25
(OMIM) Nodular heterotopia 4 / 7739
26
(HPO:0002079) Hypoplasia of the corpus callosum rare [HPO:skoehler] 161 / 7739
27
(OMIM) Facial dysmorphism, mild 3 / 7739
28
(OMIM) Dysmorphic basal ganglia 4 / 7739
29
(OMIM) Pachygyria, usually posterior 1 / 7739
30
(OMIM) Polymicrogyria, usually frontal (in some patients) 1 / 7739
31
(HPO:0001321) Cerebellar hypoplasia rare [HPO:skoehler] 114 / 7739
32
(HPO:0001302) Pachygyria 60 / 7739
33
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) MRD13 is an autosomal dominant form of mental retardation associated with variable neuronal migration defects resulting in cortical malformations. More variable features include early-onset seizures and mild dysmorphic features. Some patients may also show signs of peripheral neuropathy, ...
Clinical Description OMIM Vissers et al. (2010) reported a 4-year-old boy with de novo occurrence of moderately severe mental retardation. He showed hypotonia at age 6 months, followed by delayed psychomotor development. Mild dysmorphic features included prominent forehead, plagiocephaly, hypotonic face ...
Molecular genetics OMIM By family-based exome sequencing of 10 case-parent trios of de novo mental retardation, Vissers et al. (2010) identified a de novo heterozygous mutation in the DYNC1H1 gene (H3822P; 600112.0002) in 1 patient. Willemsen et al. (2012) identified a ...