Disease #04332

Official abbreviation DBS;ADCL
Name De Barsy syndrome (DBS, cutis laxa, autosomal dominant (ADCL))
OMIM ID -
Inheritance -
Individuals reported having this disease 8
Phenotype entries for this disease 8
Associated with 0 genes -
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Individuals

8 entries on 1 page. Showing entries 1 - 8.
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00049909 - PubMed: Fischer-Zirnsak 2015, Journal: Fischer-Zirnsak 2015 2-generation family, 1 affected, unaffected non-carrier parents/sibs M - Jordan - >02y06m 0 - - DBS;ADCL initial diagnosis wrinkly skin syndrome (WSS); thin translucent skin, hip dislocation?, adducted thumb, no osteopenia, Wormian bones?, no brain anomalies, no cranial vessel tortuosity, autism?, no brisk reflexes ALDH18A1, PYCR1 ALDH18A1 1 1 Johan den Dunnen
00049913 - PubMed: Fischer-Zirnsak 2015, Journal: Fischer-Zirnsak 2015 2-generation family, 1 affected, unaffected non-carrier parents/sibs M - Finland - >02y11m 0 - - DBS;ADCL initial diagnosis De Barsy syndrome (DBS); thin translucent skin, hip dislocation, adducted thumb, osteopenia, Wormian bones, brain anomalies, no cranial vessel tortuosity, autism?, brisk reflexes, foramen magnum stenosis ALDH18A1, PYCR1 ALDH18A1 1 1 Johan den Dunnen
00049914 - PubMed: Fischer-Zirnsak 2015, Journal: Fischer-Zirnsak 2015 2-generation family, 1 affected, unaffected non-carrier parents/sibs M - Netherlands - >02y 0 - - DBS;ADCL initial diagnosis De Barsy syndrome (DBS); thin translucent skin, no hip dislocation, no adducted thumb, no osteopenia, Wormian bones, no brain anomalies, cranial vessel tortuosity, autism, brisk reflexes, oramen magnum stenosis, shallow sella turcica ALDH18A1, PYCR1 ALDH18A1 1 1 Johan den Dunnen
00049915 - PubMed: Fischer-Zirnsak 2015, Journal: Fischer-Zirnsak 2015 2-generation family, 1 affected, unaffected non-carrier parents F - United States - >06y 0 - - DBS;ADCL initial diagnosis connective tissue disorder; thin translucent skin, no hip dislocation, no adducted thumb, no osteopenia, no Wormian bones, no brain anomalies, cranial vessel tortuosity, no autism, brisk reflexes?, os odontoideum, disharmonic bone age ALDH18A1, PYCR1 ALDH18A1 1 1 Johan den Dunnen
00049916 - PubMed: Fischer-Zirnsak 2015, Journal: Fischer-Zirnsak 2015 2-generation family, 1 affected, unaffected non-carrier parents/sibs M - Mexico - >04y 0 - - DBS;ADCL initial diagnosis De Barsy syndrome (DBS); thin translucent skin, hip dislocation, adducted thumb, osteopenia, no Wormian bones, no brain anomalies, no cranial vessel tortuosity, autism?, brisk reflexes ALDH18A1, PYCR1 ALDH18A1 1 1 Johan den Dunnen
00049917 - PubMed: Fischer-Zirnsak 2015, Journal: Fischer-Zirnsak 2015 2-generation family, 1 affected, unaffected non-carrier parents/sibs M - United Arab Emirates - >13y 0 - - DBS;ADCL initial diagnosis De Barsy syndrome (DBS); thin translucent skin, hip dislocation, adducted thumb, no osteopenia, no Wormian bones, brain anomalies?, no cranial vessel tortuosity, autism?, brisk reflexes? ALDH18A1, PYCR1 ALDH18A1 1 1 Johan den Dunnen
00049918 - PubMed: Fischer-Zirnsak 2015, Journal: Fischer-Zirnsak 2015 2-generation family, 1 affected, unaffected non-carrier parents/sibs F - United States - >03y 0 - - DBS;ADCL initial diagnosis De Barsy syndrome (DBS); thin translucent skin, hip dislocation, no adducted thumb, osteopenia?, no Wormian bones, no brain anomalies, cranial vessel tortuosity, autism?, no brisk reflexes ALDH18A1, PYCR1 ALDH18A1 1 1 Johan den Dunnen
00049919 - PubMed: Fischer-Zirnsak 2015, Journal: Fischer-Zirnsak 2015 2-generation family, 1 affected, unaffected non-carrier parents/sibs M - United States - >03y 0 - - DBS;ADCL initial diagnosis cutis laxa; thin translucent skin, hip dislocation, adducted thumb, osteopenia, no Wormian bones, no brain anomalies, cranial vessel tortuosity, no autism, no brisk reflexes ALDH18A1, PYCR1 ALDH18A1 1 1 Johan den Dunnen
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