Developmental delay with autism spectrum disorder and gait instability

General Information (adopted from Orphanet):

Synonyms, Signs: MRT38
Developmental delay with ASD and gait instability
Number of Symptoms 24
OrphanetNr: 329195
OMIM Id: 615516
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Rare disease with autism
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000189) Narrow palate 45 / 7739
2
 (HPO:0001357) Plagiocephaly 106 / 7739
3
 (HPO:0000303) Mandibular prognathia 179 / 7739
4
 (HPO:0000635) Blue irides 25 / 7739
5
 (HPO:0000486) Strabismus 576 / 7739
6
 (HPO:0000752) Hyperactivity 140 / 7739
7
 (HPO:0002317) Unsteady gait 45 / 7739
8
 (HPO:0000718) Aggressive behavior 109 / 7739
9
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
10
 (HPO:0000742) Self-mutilation 27 / 7739
11
 (HPO:0001263) Global developmental delay 853 / 7739
12
 (HPO:0001249) Intellectual disability 1089 / 7739
13
 (HPO:0001852) Sandal gap 63 / 7739
14
 (HPO:0001252) Muscular hypotonia 990 / 7739
15
 (HPO:0001324) Muscle weakness 859 / 7739
16
 (HPO:0010547) Muscle flaccidity 466 / 7739
17
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
18
 (OMIM) Delayed ambulation 2 / 7739
19
 (OMIM) Impulsive behavior 1 / 7739
20
 (HPO:0003593) Infantile onset 249 / 7739
21
 (OMIM) [DEL]Autistic features 43 / 7739
22
 (OMIM) Delayed adaptive hand use 1 / 7739
23
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
24
 (OMIM) Poor language 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Puffenberger et al. (2012) reported 7 patients of Amish or mixed Amish/Mennonite descent with global developmental delay affecting motor, speech, adaptive, and social development. Four had hypotonia and poor suck during infancy, and most had an unstable gait. ...
Molecular genetics OMIM In 7 patients of Amish or mixed Amish/Mennonite descent with autosomal recessive mental retardation-38, Puffenberger et al. (2012) identified a homozygous missense mutation in the HERC2 gene (P594L; 605837.0004). The mutation was found by a combination of homozygosity ...