Intellectual deficit, Buenos-Aires type

General Information (adopted from Orphanet):

Synonyms, Signs: mutchinick syndrome
Number of Symptoms 64
OrphanetNr: 3079
OMIM Id: 249630
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000072) Hydroureter Frequent [Orphanet] 146 / 7739
2
 (HPO:0000047) Hypospadias 250 / 7739
3
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
4
 (HPO:0000348) High forehead 157 / 7739
5
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
6
 (HPO:0000340) Sloping forehead Very frequent [Orphanet] 86 / 7739
7
 (HPO:0000303) Mandibular prognathia Very frequent [Orphanet] 179 / 7739
8
 (HPO:0007665) Curly eyelashes 6 / 7739
9
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
10
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
11
 (HPO:0000689) Dental malocclusion Very frequent [Orphanet] 114 / 7739
12
 (HPO:0000154) Wide mouth 137 / 7739
13
 (HPO:0000218) High palate 356 / 7739
14
 (HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
15
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
16
 (HPO:0000527) Long eyelashes 46 / 7739
17
 (HPO:0000341) Narrow forehead Very frequent [Orphanet] 96 / 7739
18
 (HPO:0000448) Prominent nose 56 / 7739
19
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
20
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
21
 (HPO:0000431) Wide nasal bridge 290 / 7739
22
 (HPO:0000670) Carious teeth 145 / 7739
23
 (HPO:0006482) Abnormality of dental morphology Very frequent [Orphanet] 81 / 7739
24
 (HPO:0000581) Blepharophimosis Frequent [Orphanet] 197 / 7739
25
 (HPO:0000508) Ptosis 459 / 7739
26
 (HPO:0000486) Strabismus 576 / 7739
27
 (HPO:0000613) Photophobia Very frequent [Orphanet] 158 / 7739
28
 (HPO:0000545) Myopia 286 / 7739
29
 (HPO:0000369) Low-set ears 372 / 7739
30
 (HPO:0000411) Protruding ear 140 / 7739
31
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
32
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
33
 (HPO:0001249) Intellectual disability 1089 / 7739
34
 (HPO:0002064) Spastic gait 46 / 7739
35
 (HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
36
 (HPO:0004349) Reduced bone mineral density Very frequent [Orphanet] 165 / 7739
37
 (HPO:0008425) Cuboid-shaped thoracolumbar vertebral bodies 1 / 7739
38
 (HPO:0001763) Pes planus 176 / 7739
39
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
40
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
41
 (HPO:0000768) Pectus carinatum Very frequent [Orphanet] 136 / 7739
42
 (HPO:0000767) Pectus excavatum 244 / 7739
43
 (HPO:0011968) Feeding difficulties 240 / 7739
44
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
45
 (HPO:0001537) Umbilical hernia Very frequent [Orphanet] 206 / 7739
46
 (HPO:0005248) Intrahepatic biliary atresia 6 / 7739
47
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
48
 (HPO:0001508) Failure to thrive 454 / 7739
49
 (HPO:0002213) Fine hair Very frequent [Orphanet] 77 / 7739
50
 (HPO:0008407) Hyperconvex thumb nails 1 / 7739
51
 (HPO:0001231) Abnormality of the fingernails Very frequent [Orphanet] 116 / 7739
52
 (HPO:0002286) Fair hair 20 / 7739
53
 (HPO:0004760) Congenital septal defect Very frequent [Orphanet] 69 / 7739
54
 (HPO:0001631) Atria septal defect 274 / 7739
55
 (HPO:0400004) Long ear Very frequent [Orphanet] 94 / 7739
56
 (HPO:0000238) Hydrocephalus 278 / 7739
57
 (OMIM) Irregular ridges on incisors 1 / 7739
58
 (OMIM) Light blue irides 1 / 7739
59
 (OMIM) Situs abdominalis inversus 1 / 7739
60
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
61
 (OMIM) Long curly eyelashes 3 / 7739
62
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
63
 (HPO:0001338) Partial agenesis of the corpus callosum 22 / 7739
64
 (OMIM) Calyceal dilation 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Among the children of a consanguineous mating, Mutchinick (1972) described 2 with an apparently distinctive syndrome of mental and physical retardation, peculiar facies, and heart and renal malformations. True microcephaly and Seckel dwarfism were suggested but for one ...