Intellectual deficit - hypoplastic corpus callosum - preauricular tag

General Information (adopted from Orphanet):

Synonyms, Signs: Da Silva syndrome
Number of Symptoms 26
OrphanetNr: 1495
OMIM Id:
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic syndrome with corpus callosum agenesis /dysgenesis as a major feature
 -Rare genetic disease
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
Syndrome with corpus callosum agenesis /dysgenesis as a major feature
 -Rare developmental defect during embryogenesis
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
2
(HPO:0000160) Narrow mouth Occasional [Orphanet] 188 / 7739
3
(HPO:0003196) Short nose Occasional [Orphanet] 264 / 7739
4
(HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
5
(HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
6
(HPO:0000348) High forehead Occasional [Orphanet] 157 / 7739
7
(HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
8
(HPO:0000384) Preauricular skin tag Very frequent [Orphanet] 62 / 7739
9
(HPO:0000411) Protruding ear Very frequent [Orphanet] 140 / 7739
10
(HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
11
(HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
12
(HPO:0001762) Talipes equinovarus Frequent [Orphanet] 309 / 7739
13
(HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
14
(HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
15
(HPO:0002577) Abnormality of the stomach Occasional [Orphanet] 84 / 7739
16
(HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
17
(HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
18
(HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
19
(HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
20
(HPO:0001608) Abnormality of the voice Occasional [Orphanet] 126 / 7739
21
(HPO:0010978) Abnormality of immune system physiology Very frequent [Orphanet] 148 / 7739
22
(HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Very frequent [Orphanet] 180 / 7739
23
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
24
(HPO:0001522) Death in infancy Frequent [Orphanet] 275 / 7739
25
(HPO:0002119) Ventriculomegaly Very frequent [Orphanet] 253 / 7739
26
(HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: