MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTICFEATURES

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 22
OrphanetNr:
OMIM Id: 613670
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:0000256) Macrocephaly 298 / 7739
2
(HPO:0000494) Downslanted palpebral fissures 328 / 7739
3
(HPO:0011220) Prominent forehead 137 / 7739
4
(HPO:0003196) Short nose 264 / 7739
5
(HPO:0000194) Open mouth 70 / 7739
6
(HPO:0000455) Broad nasal tip 67 / 7739
7
(HPO:0001249) Intellectual disability 1089 / 7739
8
(HPO:0000718) Aggressive behavior 109 / 7739
9
(HPO:0000733) Stereotypy 58 / 7739
10
(HPO:0000752) Hyperactivity 140 / 7739
11
(HPO:0002194) Delayed gross motor development 37 / 7739
12
(HPO:0000750) Delayed speech and language development 197 / 7739
13
(HPO:0001513) Obesity rare [HPO:skoehler] 172 / 7739
14
(OMIM) Obsessions 1 / 7739
15
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
16
(OMIM) Mental retardation, mild to moderate 33 / 7739
17
(OMIM) Severely delayed speech development 1 / 7739
18
(OMIM) Delayed walking 13 / 7739
19
(MedDRA:10010219) Compulsions 3 / 7739
20
(OMIM) [DEL]Autistic features 43 / 7739
21
(OMIM) Mood lability 1 / 7739
22
(MedDRA:10015715) Expressive language disorder 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hamdan et al. (2010) reported 2 unrelated children of French Canadian origin with a developmental disorder characterized by mild to moderate mental retardation, language impairment, and autistic features. Both showed global delay, delayed walking, and severely delayed speech ...
Molecular genetics OMIM Hamdan et al. (2010) identified 2 different de novo heterozygous mutations in the FOXP1 gene (605515.0001 and 605515.0002, respectively) in 2 unrelated children of French Canadian origin with moderate mental retardation, expressive language deficits, and autism spectrum disorder ...