Mosaic variegated aneuploidy syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Warburton-Anyane-Yeboa syndrome
Number of Symptoms 104
OrphanetNr: 1052
OMIM Id: 257300
614114
ICD-10: Q99.8
UMLs: C1850343
MeSH: C536987
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 41 cases [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Chromosomal anomaly
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Polymalformative genetic syndrome with increased risk of developing cancer
 -Rare genetic disease
 -Rare oncologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000054) Micropenis 257 / 7739
2
 (HPO:0100615) Ovarian neoplasm Occasional [Orphanet] 25 / 7739
3
 (HPO:0000107) Renal cyst Occasional [Orphanet] 126 / 7739
4
 (HPO:0002667) Nephroblastoma Occasional [Orphanet] 30 / 7739
5
 (HPO:0000028) Cryptorchidism 347 / 7739
6
 (HPO:0000062) Ambiguous genitalia Occasional [Orphanet] 74 / 7739
7
 (HPO:0000048) Bifid scrotum 36 / 7739
8
 (HPO:0000047) Hypospadias 250 / 7739
9
 (HPO:0100650) Vaginal neoplasm Occasional [Orphanet] 6 / 7739
10
 (HPO:0000348) High forehead Occasional [Orphanet] 157 / 7739
11
 (HPO:0002007) Frontal bossing Occasional [Orphanet] 366 / 7739
12
 (HPO:0000316) Hypertelorism 644 / 7739
13
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
14
 (HPO:0000175) Cleft palate 349 / 7739
15
 (HPO:0000343) Long philtrum 262 / 7739
16
 (HPO:0000286) Epicanthus Very frequent [Orphanet] 371 / 7739
17
 (HPO:0000347) Micrognathia 426 / 7739
18
 (HPO:0000445) Wide nose 190 / 7739
19
 (HPO:0011800) Midface retrusion 221 / 7739
20
 (HPO:0000463) Anteverted nares 305 / 7739
21
 (HPO:0005105) Abnormal nasal morphology Occasional [Orphanet] 114 / 7739
22
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
23
 (HPO:0000248) Brachycephaly 222 / 7739
24
 (HPO:0000457) Depressed nasal ridge Occasional [Orphanet] 85 / 7739
25
 (HPO:0000494) Downslanted palpebral fissures Occasional [Orphanet] 328 / 7739
26
 (HPO:0000929) Abnormality of the skull Occasional [Orphanet] 53 / 7739
27
 (HPO:0000272) Malar flattening 277 / 7739
28
 (HPO:0000340) Sloping forehead Occasional [Orphanet] 86 / 7739
29
 (HPO:0003196) Short nose 264 / 7739
30
 (HPO:0000470) Short neck 345 / 7739
31
 (HPO:0000582) Upslanted palpebral fissure 185 / 7739
32
 (HPO:0005280) Depressed nasal bridge 381 / 7739
33
 (HPO:0000207) Triangular mouth 8 / 7739
34
 (HPO:0001305) Dandy-Walker malformation Very frequent [Orphanet] 79 / 7739
35
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
36
 (HPO:0000325) Triangular face Frequent [Orphanet] 91 / 7739
37
 (HPO:0000501) Glaucoma Very frequent [Orphanet] 180 / 7739
38
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Very frequent [Orphanet] 142 / 7739
39
 (HPO:0000639) Nystagmus 555 / 7739
40
 (HPO:0000481) Abnormality of the cornea Very frequent [Orphanet] 124 / 7739
41
 (HPO:0000478) Abnormality of the eye Frequent [Orphanet] 126 / 7739
42
 (HPO:0000518) Cataract Very frequent [Orphanet] 454 / 7739
43
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
44
 (HPO:0000598) Abnormality of the ear Occasional [Orphanet] 98 / 7739
45
 (HPO:0000357) Abnormal location of ears Occasional [Orphanet] 328 / 7739
46
 (HPO:0000369) Low-set ears 372 / 7739
47
 (HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
48
 (HPO:0011344) Severe global developmental delay 46 / 7739
49
 (HPO:0002187) Intellectual disability, profound 44 / 7739
50
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
51
 (HPO:0002123) Generalized myoclonic seizures 62 / 7739
52
 (HPO:0000821) Hypothyroidism Occasional [Orphanet] 141 / 7739
53
 (HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 288 / 7739
54
 (HPO:0000879) Short sternum 16 / 7739
55
 (HPO:0002797) Osteolysis Occasional [Orphanet] 68 / 7739
56
 (HPO:0000924) Abnormality of the skeletal system Occasional [Orphanet] 114 / 7739
57
 (HPO:0001562) Oligohydramnios 75 / 7739
58
 (HPO:0010880) Increased nuchal translucency Very frequent [Orphanet] 13 / 7739
59
 (HPO:0001561) Polyhydramnios Very frequent [Orphanet] 191 / 7739
60
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
61
 (HPO:0001541) Ascites Very frequent [Orphanet] 94 / 7739
62
 (HPO:0100867) Duodenal stenosis Occasional [Orphanet] 29 / 7739
63
 (HPO:0006753) Neoplasm of the stomach Occasional [Orphanet] 13 / 7739
64
 (HPO:0100273) Neoplasm of the colon Occasional [Orphanet] 18 / 7739
65
 (HPO:0007378) Neoplasm of the gastrointestinal tract Occasional [Orphanet] 11 / 7739
66
 (HPO:0200008) Intestinal polyposis Occasional [Orphanet] 23 / 7739
67
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
68
 (HPO:0008897) Postnatal growth retardation 113 / 7739
69
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
70
 (HPO:0001518) Small for gestational age 107 / 7739
71
 (HPO:0001511) Intrauterine growth retardation Occasional [Orphanet] 358 / 7739
72
 (HPO:0001000) Abnormality of skin pigmentation Occasional [Orphanet] 105 / 7739
73
 (HPO:0000957) Cafe-au-lait spot Occasional [Orphanet] 84 / 7739
74
 (HPO:0012303) Abnormality of the aortic arch Occasional [Orphanet] 57 / 7739
75
 (HPO:0001631) Atria septal defect Occasional [Orphanet] 274 / 7739
76
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
77
 (HPO:0002488) Acute leukemia Occasional [Orphanet] 29 / 7739
78
 (HPO:0002863) Myelodysplasia Occasional [Orphanet] 30 / 7739
79
 (HPO:0001909) Leukemia 46 / 7739
80
 (HPO:0200024) Premature chromatid separation 3 / 7739
81
 (HPO:0002101) Abnormal lung lobation Occasional [Orphanet] 33 / 7739
82
 (HPO:0002104) Apnea Occasional [Orphanet] 106 / 7739
83
 (HPO:0002664) Neoplasm Occasional [Orphanet] 111 / 7739
84
 (HPO:0002859) Rhabdomyosarcoma 10 / 7739
85
 (HPO:0005387) Combined immunodeficiency 5 / 7739
86
 (HPO:0010978) Abnormality of immune system physiology Occasional [Orphanet] 148 / 7739
87
 (HPO:0001290) Generalized hypotonia 51 / 7739
88
 (HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
89
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
90
 (HPO:0003812) Phenotypic variability 129 / 7739
91
 (HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 137 / 7739
92
 (HPO:0006872) Cerebral hypoplasia 7 / 7739
93
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
94
 (HPO:0012443) Abnormality of brain morphology Occasional [Orphanet] 45 / 7739
95
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
96
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
97
 (HPO:0040065) Abnormal morphology of bones of the upper limbs Occasional [Orphanet] 25 / 7739
98
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
99
 (HPO:0006849) Hypodysplasia of the corpus callosum 2 / 7739
100
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
101
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
102
 (HPO:0030448) Soft tissue sarcoma Occasional [Orphanet] 18 / 7739
103
 (HPO:0002119) Ventriculomegaly Very frequent [Orphanet] 253 / 7739
104
 (HPO:0000238) Hydrocephalus 278 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: