Intellectual deficit, Birk-Barel type

General Information (adopted from Orphanet):

Synonyms, Signs: MENTAL RETARDATION WITH HYPOTONIA AND FACIAL DYSMORPHISM
BIRK-BAREL SYNDROME
Intellectual deficit - hypotonia - facial dysmorphism
Number of Symptoms 14
OrphanetNr: 166108
OMIM Id: 612292
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 1 family [Orphanet]
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000574) Thick eyebrow 96 / 7739
2
 (HPO:0002553) Highly arched eyebrow 92 / 7739
3
 (HPO:0000218) High palate 356 / 7739
4
 (HPO:0011819) Submucous cleft soft palate 12 / 7739
5
 (HPO:0000341) Narrow forehead 96 / 7739
6
 (HPO:0001999) Abnormal facial shape 169 / 7739
7
 (HPO:0011229) Broad eyebrow 9 / 7739
8
 (HPO:0000322) Short philtrum 130 / 7739
9
 (HPO:0001249) Intellectual disability 1089 / 7739
10
 (HPO:0002015) Dysphagia 301 / 7739
11
 (HPO:0000960) Sacral dimple 29 / 7739
12
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
13
 (HPO:0001252) Muscular hypotonia 990 / 7739
14
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Barel et al. (2008) reported an Israeli-Arab kindred with an apparently maternally transmitted (imprinted with paternal silencing) syndrome of mental retardation, hypotonia, and characteristic dysmorphism. All affected individuals had moderate to severe mental retardation and were hyperactive. Severe ...
Molecular genetics OMIM Within the interval on 8q24 linked to a mental retardation dysmorphism syndrome, Barel et al. (2008) identified only one imprinted gene: KCNK9 (605874), which undergoes paternal silencing in humans and mice and is exclusively expressed from the maternal ...