Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type

General Information (adopted from Orphanet):

Synonyms, Signs: MICROCEPHALY, MENTAL RETARDATION, AND DISTINCTIVE FACIES, WITH CARDIAC AND GENITOURINARY MALFORMATIONS
BBIS
Number of Symptoms 28
OrphanetNr: 363444
OMIM Id: 613680
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: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
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:0000104) Renal agenesis 68 / 7739
2
 (HPO:0000089) Renal hypoplasia 78 / 7739
3
 (HPO:0010958) Bilateral renal agenesis 16 / 7739
4
 (HPO:0000010) Recurrent urinary tract infections 56 / 7739
5
 (HPO:0000122) Unilateral renal agenesis 24 / 7739
6
 (HPO:0008209) Premature ovarian failure 28 / 7739
7
 (HPO:0000085) Horseshoe kidney 39 / 7739
8
 (HPO:0003189) Long nose 20 / 7739
9
 (HPO:0009890) High anterior hairline 10 / 7739
10
 (HPO:0000582) Upslanted palpebral fissure 185 / 7739
11
 (HPO:0000490) Deeply set eye 131 / 7739
12
 (HPO:0000670) Carious teeth 145 / 7739
13
 (HPO:0000252) Microcephaly 832 / 7739
14
 (HPO:0000689) Dental malocclusion 114 / 7739
15
 (HPO:0001999) Abnormal facial shape 169 / 7739
16
 (HPO:0000581) Blepharophimosis 197 / 7739
17
 (HPO:0009765) Low hanging columella 9 / 7739
18
 (HPO:0000545) Myopia 286 / 7739
19
 (HPO:0001249) Intellectual disability 1089 / 7739
20
 (HPO:0001263) Global developmental delay 853 / 7739
21
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
22
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
23
 (OMIM) Tall forehead 4 / 7739
24
 (HPO:0030127) Endometriosis 2 / 7739
25
 (OMIM) Thick vermilion of upper and lower lips 1 / 7739
26
 (HPO:0012745) Short palpebral fissure 47 / 7739
27
 (OMIM) Ventricular septal defect, membranous or muscular 1 / 7739
28
 (MedDRA:10014778) Endometriosis 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Beaulieu-Boycott-Innes syndrome (BBIS) is an autosomal recessive neurodevelopmental disorder characterized by delayed development, moderate intellectual disability, and dysmorphic facial features. Other developmental anomalies, such as cardiac and renal defects, may also occur (summary by Beaulieu et al., 2013). ...
Clinical Description OMIM Boycott et al. (2010) described 2 pairs of sisters from 2 consanguineous Canadian Dariusleut Hutterite families with a distant common ancestor. The patients showed developmental delay with head circumference in the 2nd centile and distinctive facial features, including ...
Molecular genetics OMIM In 2 sets of sisters from related Dariusleut Hutterite families with BBIS, Beaulieu et al. (2013) identified a homozygous missense mutation in the THOC6 gene (G46R; 615403.0001). The mutation, which was found by Sanger sequencing followed by exome ...