Intellectual deficit - athetosis - microphthalmia
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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33
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OrphanetNr:
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1236
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OMIM Id:
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ICD-10:
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UMLs:
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MeSH:
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MedDRA:
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Snomed:
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Prevalence, inheritance and age of onset:
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Prevalence:
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No data available.
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Inheritance:
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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No data available.
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1
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(HPO:0000337)
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Broad forehead |
Very frequent [Orphanet]
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116 / 7739
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2
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(HPO:0100267)
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Lip pit |
Frequent [Orphanet]
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9 / 7739
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3
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(HPO:0000248)
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Brachycephaly |
Very frequent [Orphanet]
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222 / 7739
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4
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(HPO:0000303)
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Mandibular prognathia |
Frequent [Orphanet]
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179 / 7739
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5
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(HPO:0002006)
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Facial cleft |
Very frequent [Orphanet]
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25 / 7739
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6
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(HPO:0002705)
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High, narrow palate |
Frequent [Orphanet]
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308 / 7739
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7
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(HPO:0010751)
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Chin dimple |
Very frequent [Orphanet]
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16 / 7739
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8
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(HPO:0009804)
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Reduced number of teeth |
Very frequent [Orphanet]
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137 / 7739
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9
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(HPO:0002007)
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Frontal bossing |
Very frequent [Orphanet]
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366 / 7739
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10
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(HPO:0000252)
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Microcephaly |
Very frequent [Orphanet]
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832 / 7739
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11
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(HPO:0000506)
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Telecanthus |
Very frequent [Orphanet]
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156 / 7739
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12
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(HPO:0011800)
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Midface retrusion |
Very frequent [Orphanet]
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221 / 7739
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13
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(HPO:0011331)
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Hemifacial atrophy |
Frequent [Orphanet]
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79 / 7739
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14
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(HPO:0000316)
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Hypertelorism |
Very frequent [Orphanet]
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644 / 7739
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15
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(HPO:0008056)
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Aplasia/Hypoplasia affecting the eye |
Frequent [Orphanet]
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142 / 7739
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16
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(HPO:0000592)
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Blue sclerae |
Frequent [Orphanet]
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85 / 7739
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17
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(HPO:0000486)
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Strabismus |
Frequent [Orphanet]
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576 / 7739
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18
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(HPO:0000612)
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Iris coloboma |
Frequent [Orphanet]
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116 / 7739
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19
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(HPO:0009748)
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Large earlobe |
Very frequent [Orphanet]
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27 / 7739
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20
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(HPO:0000384)
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Preauricular skin tag |
Frequent [Orphanet]
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62 / 7739
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21
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(HPO:0100720)
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Hypoplasia of the ear cartilage |
Very frequent [Orphanet]
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12 / 7739
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22
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(HPO:0001250)
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Seizures |
Frequent [Orphanet]
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1245 / 7739
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23
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(HPO:0001276)
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Hypertonia |
Very frequent [Orphanet]
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317 / 7739
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24
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(HPO:0100022)
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Abnormality of movement |
Very frequent [Orphanet]
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129 / 7739
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25
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(HPO:0002558)
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Supernumerary nipple |
Very frequent [Orphanet]
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40 / 7739
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26
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(HPO:0001182)
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Tapered finger |
Frequent [Orphanet]
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93 / 7739
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27
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(HPO:0100490)
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Camptodactyly of finger |
Frequent [Orphanet]
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212 / 7739
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28
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(HPO:0000954)
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Single transverse palmar crease |
Very frequent [Orphanet]
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162 / 7739
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29
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(HPO:0001172)
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Abnormality of the thumb |
Very frequent [Orphanet]
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103 / 7739
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30
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(HPO:0000765)
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Abnormality of the thorax |
Frequent [Orphanet]
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64 / 7739
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31
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(HPO:0002650)
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Scoliosis |
Very frequent [Orphanet]
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705 / 7739
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32
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(HPO:0007477)
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Abnormal dermatoglyphics |
Very frequent [Orphanet]
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72 / 7739
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33
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(HPO:0012758)
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Neurodevelopmental delay |
Very frequent [Orphanet]
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949 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |