Deafness - intellectual deficit, Martin-Probst type

General Information (adopted from Orphanet):

Synonyms, Signs: MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME
MRXSMP
X-linked deafness - intellectual deficit syndrome
Martin-Probst syndrome
Number of Symptoms 51
OrphanetNr: 85321
OMIM Id: 300519
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 cases [Orphanet]
Inheritance: X-linked 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
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000093) Proteinuria common [HPO:skoehler] 169 / 7739
2
 (HPO:0000054) Micropenis Frequent [Orphanet] occasional [HPO:skoehler] 257 / 7739
3
 (HPO:0000107) Renal cyst Frequent [Orphanet] 126 / 7739
4
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
5
 (HPO:0008678) Renal hypoplasia/aplasia Frequent [Orphanet] 127 / 7739
6
 (HPO:0000048) Bifid scrotum Frequent [Orphanet] occasional [HPO:skoehler] 36 / 7739
7
 (HPO:0000089) Renal hypoplasia common [HPO:skoehler] 78 / 7739
8
 (HPO:0000083) Renal insufficiency Frequent [Orphanet] common [HPO:skoehler] 232 / 7739
9
 (HPO:0000028) Cryptorchidism occasional [HPO:skoehler] 347 / 7739
10
 (HPO:0008689) Bilateral cryptorchidism 38 / 7739
11
 (HPO:0000232) Everted lower lip vermilion Frequent [Orphanet] 90 / 7739
12
 (HPO:0000316) Hypertelorism 644 / 7739
13
 (HPO:0000581) Blepharophimosis Frequent [Orphanet] 197 / 7739
14
 (HPO:0000179) Thick lower lip vermilion 72 / 7739
15
 (HPO:0000689) Dental malocclusion 114 / 7739
16
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
17
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
18
 (HPO:0000272) Malar flattening Very frequent [Orphanet] 277 / 7739
19
 (HPO:0000252) Microcephaly Frequent [Orphanet] common [HPO:skoehler] 832 / 7739
20
 (HPO:0000154) Wide mouth Very frequent [Orphanet] 137 / 7739
21
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
22
 (HPO:0000347) Micrognathia 426 / 7739
23
 (HPO:0000506) Telecanthus 156 / 7739
24
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
25
 (HPO:0000431) Wide nasal bridge Very frequent [Orphanet] 290 / 7739
26
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
27
 (HPO:0000545) Myopia Frequent [Orphanet] common [HPO:skoehler] 286 / 7739
28
 (HPO:0000369) Low-set ears 372 / 7739
29
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
30
 (HPO:0000365) Hearing impairment 539 / 7739
31
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
32
 (HPO:0001249) Intellectual disability 1089 / 7739
33
 (HPO:0006610) Wide intermamillary distance 46 / 7739
34
 (HPO:0004404) Abnormality of the nipple Very frequent [Orphanet] 54 / 7739
35
 (HPO:0006709) Aplasia/Hypoplasia of the nipples Very frequent [Orphanet] 28 / 7739
36
 (HPO:0002557) Hypoplastic nipples 33 / 7739
37
 (HPO:0000821) Hypothyroidism Frequent [Orphanet] occasional [HPO:skoehler] 141 / 7739
38
 (HPO:0008191) Thyroid agenesis 11 / 7739
39
 (HPO:0001537) Umbilical hernia Very frequent [Orphanet] 206 / 7739
40
 (HPO:0004322) Short stature Frequent [Orphanet] common [HPO:skoehler] 1232 / 7739
41
 (HPO:0001009) Telangiectasia 46 / 7739
42
 (HPO:0007477) Abnormal dermatoglyphics Very frequent [Orphanet] 72 / 7739
43
 (HPO:0100585) Telangiectasia of the skin Frequent [Orphanet] 66 / 7739
44
 (HPO:0001876) Pancytopenia Frequent [Orphanet] common [HPO:skoehler] 89 / 7739
45
 (OMIM) Telangiectasias 1 / 7739
46
 (OMIM) Mental retardation, mild to severe 14 / 7739
47
 (OMIM) Hearing loss, sensorineural, severe to profound 3 / 7739
48
 (OMIM) Absence of the vas deferens and epididymis (in 1 of 3 siblings) 1 / 7739
49
 (OMIM) Small phallus 2 / 7739
50
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
51
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Martin et al. (2000) reported 3 related males with congenital sensorineural hearing loss, mental retardation, short stature, congenital umbilical hernia, facial dysmorphism, abnormal teeth, widely spaced nipples, and abnormal dermatoglyphics. The 2 older males developed progressive pancytopenia in ...
Molecular genetics OMIM In 2 affected males of a family with Martin-Probst X-linked mental retardation syndrome reported by Martin et al. (2000), Bedoyan et al. (2012) identified a hemizygous mutation in the RAB40L gene (D59G; 300405.0001) that rendered the protein unstable ...