Baraitser-Winter syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Iris coloboma-ptosis-intellectual deficit syndrome
Cerebrofrontofacial syndrome type 3
Number of Symptoms 74
OrphanetNr: 2995
OMIM Id: 243310
614583
ICD-10: Q04.3
Q15.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 30 cases [Orphanet]
Inheritance: Autosomal dominant
Not applicable
[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
Other syndrome with lissencephaly as a major feature
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease
Ptosis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000072) Hydroureter Frequent [Orphanet] 146 / 7739
2
 (HPO:0000054) Micropenis 257 / 7739
3
 (HPO:0000028) Cryptorchidism 347 / 7739
4
 (HPO:0000431) Wide nasal bridge 290 / 7739
5
 (HPO:0100540) Palpebral edema Occasional [Orphanet] 31 / 7739
6
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
7
 (HPO:0003196) Short nose 264 / 7739
8
 (HPO:0000280) Coarse facial features Very frequent [Orphanet] 189 / 7739
9
 (HPO:0000286) Epicanthus Very frequent [Orphanet] 371 / 7739
10
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
11
 (HPO:0000293) Full cheeks Very frequent [Orphanet] 85 / 7739
12
 (HPO:0000278) Retrognathia rare [HPO:skoehler] 100 / 7739
13
 (HPO:0005105) Abnormal nasal morphology Frequent [Orphanet] 114 / 7739
14
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
15
 (HPO:0000307) Pointed chin Very frequent [Orphanet] 45 / 7739
16
 (HPO:0005487) Prominent metopic ridge Very frequent [Orphanet] 28 / 7739
17
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
18
 (HPO:0000506) Telecanthus Very frequent [Orphanet] 156 / 7739
19
 (HPO:0000465) Webbed neck Occasional [Orphanet] 81 / 7739
20
 (HPO:0002162) Low posterior hairline Frequent [Orphanet] 88 / 7739
21
 (HPO:0000463) Anteverted nares 305 / 7739
22
 (HPO:0000154) Wide mouth Very frequent [Orphanet] 137 / 7739
23
 (HPO:0000243) Trigonocephaly Frequent [Orphanet] 40 / 7739
24
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
25
 (HPO:0000436) Abnormality of the nasal tip Very frequent [Orphanet] 18 / 7739
26
 (HPO:0000637) Long palpebral fissure 21 / 7739
27
 (HPO:0000202) Oral cleft rare [HPO:skoehler] 120 / 7739
28
 (HPO:0002553) Highly arched eyebrow Very frequent [Orphanet] rare [HPO:skoehler] 92 / 7739
29
 (HPO:0007930) Prominent epicanthal folds 4 / 7739
30
 (HPO:0000239) Large fontanelles Frequent [Orphanet] 135 / 7739
31
 (HPO:0000568) Microphthalmia rare [HPO:skoehler] 183 / 7739
32
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
33
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
34
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
35
 (HPO:0000233) Thin vermilion border Very frequent [Orphanet] 124 / 7739
36
 (HPO:0000567) Chorioretinal coloboma 26 / 7739
37
 (HPO:0000479) Abnormality of the retina Frequent [Orphanet] 74 / 7739
38
 (HPO:0000588) Optic nerve coloboma Occasional [Orphanet] 27 / 7739
39
 (HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
40
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Frequent [Orphanet] 142 / 7739
41
 (HPO:0001100) Heterochromia iridis Frequent [Orphanet] 31 / 7739
42
 (HPO:0000612) Iris coloboma Very frequent [Orphanet] 116 / 7739
43
 (HPO:0000482) Microcornea Occasional [Orphanet] 102 / 7739
44
 (HPO:0000396) Overfolded helix 21 / 7739
45
 (HPO:0000369) Low-set ears 372 / 7739
46
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
47
 (HPO:0001263) Global developmental delay 853 / 7739
48
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
49
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
50
 (HPO:0001249) Intellectual disability 1089 / 7739
51
 (HPO:0009611) Bifid distal phalanx of the thumb Occasional [Orphanet] 15 / 7739
52
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
53
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
54
 (HPO:0010066) Duplication of phalanx of hallux rare [HPO:skoehler] 9 / 7739
55
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
56
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
57
 (HPO:0008897) Postnatal growth retardation 113 / 7739
58
 (HPO:0004322) Short stature 1232 / 7739
59
 (HPO:0001650) Aortic valve stenosis 49 / 7739
60
 (HPO:0002140) Ischemic stroke Occasional [Orphanet] 70 / 7739
61
 (HPO:0001647) Bicuspid aortic valve 34 / 7739
62
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
63
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
64
 (HPO:0001252) Muscular hypotonia 990 / 7739
65
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
66
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
67
 (HPO:0002119) Ventriculomegaly rare [HPO:skoehler] 253 / 7739
68
 (HPO:0012905) Euryblepharon Very frequent [Orphanet] 12 / 7739
69
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
70
 (HPO:0001302) Pachygyria 60 / 7739
71
 (HPO:0001339) Lissencephaly 30 / 7739
72
 (HPO:0002536) Abnormal cortical gyration Very frequent [Orphanet] 72 / 7739
73
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
74
 (HPO:0002120) Cerebral cortical atrophy Frequent [Orphanet] 187 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: