Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: BPID SYNDROME
BLEPHAROPHIMOSIS-PTOSIS-MENTAL RETARDATION SYNDROME
BPIDS
Number of Symptoms 58
OrphanetNr: 329255
OMIM Id: 615057
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Blepharophimosis-intellectual deficit syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000059) Hypoplastic labia majora 22 / 7739
2
 (HPO:0000174) Abnormality of the palate 298 / 7739
3
 (HPO:0005280) Depressed nasal bridge 381 / 7739
4
 (HPO:0000581) Blepharophimosis 197 / 7739
5
 (HPO:0000160) Narrow mouth 188 / 7739
6
 (HPO:0000316) Hypertelorism 644 / 7739
7
 (HPO:0000582) Upslanted palpebral fissure 185 / 7739
8
 (HPO:0000535) Sparse and thin eyebrow 76 / 7739
9
 (HPO:0000463) Anteverted nares 305 / 7739
10
 (HPO:0000347) Micrognathia 426 / 7739
11
 (HPO:0000506) Telecanthus 156 / 7739
12
 (HPO:0000252) Microcephaly 832 / 7739
13
 (HPO:0000486) Strabismus 576 / 7739
14
 (HPO:0000545) Myopia 286 / 7739
15
 (HPO:0000483) Astigmatism 67 / 7739
16
 (HPO:0000508) Ptosis 459 / 7739
17
 (HPO:0000377) Abnormality of the pinna 111 / 7739
18
 (HPO:0000369) Low-set ears 372 / 7739
19
 (HPO:0001270) Motor delay 322 / 7739
20
 (HPO:0010864) Intellectual disability, severe 120 / 7739
21
 (HPO:0001344) Absent speech 57 / 7739
22
 (HPO:0001374) Congenital hip dislocation 51 / 7739
23
 (HPO:0002566) Intestinal malrotation 89 / 7739
24
 (HPO:0002019) Constipation 194 / 7739
25
 (HPO:0011968) Feeding difficulties 240 / 7739
26
 (HPO:0004322) Short stature 1232 / 7739
27
 (HPO:0001508) Failure to thrive 454 / 7739
28
 (HPO:0008070) Sparse hair 94 / 7739
29
 (HPO:0000963) Thin skin 96 / 7739
30
 (HPO:0000964) Eczema 81 / 7739
31
 (HPO:0001680) Coarctation of aorta 57 / 7739
32
 (HPO:0001629) Ventricular septal defect 316 / 7739
33
 (HPO:0001631) Atria septal defect 274 / 7739
34
 (HPO:0001601) Laryngomalacia 61 / 7739
35
 (HPO:0002719) Recurrent infections 107 / 7739
36
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
37
 (HPO:0001252) Muscular hypotonia 990 / 7739
38
 (HPO:0001324) Muscle weakness 859 / 7739
39
 (HPO:0010547) Muscle flaccidity 466 / 7739
40
 (HPO:0002119) Ventriculomegaly 253 / 7739
41
 (OMIM) Chiari type I malformation 2 / 7739
42
 (OMIM) Agenesis of the rostrum of corpus callosum 1 / 7739
43
 (OMIM) Low ACTH level 1 / 7739
44
 (OMIM) Reduced size of the pituitary gland 1 / 7739
45
 (OMIM) Clinodactyly of 5th fingers 2 / 7739
46
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
47
 (OMIM) Double right kidney 1 / 7739
48
 (OMIM) Elevated TSH 3 / 7739
49
 (OMIM) Anterior commissure not evident 1 / 7739
50
 (OMIM) Gastrectasia 1 / 7739
51
 (OMIM) Pyelectasis 2 / 7739
52
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
53
 (OMIM) Strabismus, mild 1 / 7739
54
 (OMIM) Distension of gall-bladder 1 / 7739
55
 (OMIM) Low growth hormone levels 1 / 7739
56
 (OMIM) Partial empty sella turcica 1 / 7739
57
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
58
 (OMIM) Anomalies of cholesterol levels 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) BPIDS is characterized by blepharophimosis, ptosis, mild upslanting of the palpebral fissures, epicanthus, ectodermal anomalies, developmental delay, and severe intellectual disability with absent speech. Proportionate growth retardation with a small head circumference/microcephaly, congenital malformations, muscular hypotonia, anomalies on ...
Clinical Description OMIM Dentici et al. (2011) described 2 Italian sibs, a 6-year-old girl and an 18-month-old boy, who presented with overlapping clinical findings. Major characteristics included facial dysmorphisms with upward slanting palpebral fissures, blepharophimosis, telecanthus, hypertelorism, posteriorly rotated and abnormal ...
Molecular genetics OMIM Basel-Vanagaite et al. (2012) performed exome sequencing of 2 unrelated individuals with BPIDS and identified the UBE3B gene as the only gene with rare or unique biallelic damaging variants in both individuals. Individual 1 had a homozygous splice ...