SECKEL SYNDROME 6

General Information (adopted from Orphanet):

Synonyms, Signs: SCKL6
Number of Symptoms 6
OrphanetNr:
OMIM Id: 614728
ICD-10:
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: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly 832 / 7739
2
 (HPO:0001263) Global developmental delay 853 / 7739
3
 (HPO:0001249) Intellectual disability 1089 / 7739
4
 (HPO:0000750) Delayed speech and language development 197 / 7739
5
 (HPO:0004322) Short stature 1232 / 7739
6
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Sir et al. (2011) ascertained a consanguineous Pakistani family in which 3 female cousins were born with microcephaly, with head circumferences of -4 SD to -6 SD. All had speech delay, but learned to speak by 3 years ...
Molecular genetics OMIM In 3 female cousins from a consanguineous Pakistani family with microcephaly and short stature mapping to chromosome 3q22, Sir et al. (2011) sequenced 3 candidate genes and identified homozygosity for a nonsense mutation in the CEP63 gene (614724.0001). ...