Blepharophimosis-intellectual deficit syndrome, MKB type

General Information (adopted from Orphanet):

Synonyms, Signs: BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, MAAT-KIEVIT-BRUNNER TYPE
OHDOX
BMRS, Maat-Kievit-Brunner type
Blepharophimosis-intellectual deficit syndrome, Maat-Kievit-Brunner type
BMRS, MKB type
Number of Symptoms 25
OrphanetNr: 293707
OMIM Id: 300895
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive
[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:0000046) Scrotal hypoplasia 54 / 7739
2
 (HPO:0000028) Cryptorchidism 347 / 7739
3
 (HPO:0000347) Micrognathia 426 / 7739
4
 (HPO:0000343) Long philtrum 262 / 7739
5
 (HPO:0005280) Depressed nasal bridge 381 / 7739
6
 (HPO:0000581) Blepharophimosis 197 / 7739
7
 (HPO:0000414) Bulbous nose 63 / 7739
8
 (HPO:0000280) Coarse facial features 189 / 7739
9
 (HPO:0000160) Narrow mouth 188 / 7739
10
 (HPO:0000319) Smooth philtrum 72 / 7739
11
 (HPO:0000431) Wide nasal bridge 290 / 7739
12
 (HPO:0000233) Thin vermilion border 124 / 7739
13
 (HPO:0000448) Prominent nose 56 / 7739
14
 (HPO:0000508) Ptosis 459 / 7739
15
 (HPO:0000365) Hearing impairment 539 / 7739
16
 (HPO:0001263) Global developmental delay 853 / 7739
17
 (HPO:0001249) Intellectual disability 1089 / 7739
18
 (HPO:0001382) Joint hypermobility 231 / 7739
19
 (HPO:0011968) Feeding difficulties 240 / 7739
20
 (HPO:0004325) Decreased body weight 492 / 7739
21
 (HPO:0000957) Cafe-au-lait spot 84 / 7739
22
 (MedDRA:10058668) Clinodactyly 91 / 7739
23
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
24
 (HPO:0030084) Clinodactyly 90 / 7739
25
 (OMIM) Overriding 3rd toes 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Maat-Kievit et al. (1993) described a boy (patient 2) with low weight, blepharophimosis, ptosis, wide depressed nasal bridge, long flat philtrum, thin vermilion, microstomia, micrognathia, cryptorchidism, scrotum hypoplasia, joint hyperextensibility, clinodactyly, overriding third toes, cafe-au-lait spots, developmental delay, ...
Molecular genetics OMIM Vulto-van Silfhout et al. (2013) performed exome sequencing in 2 families segregating X-linked Ohdo syndrome, including the family originally studied by Maat-Kievit et al. (1993) and another family with 2 affected males, and identified hemizygous missense mutations in ...