Directory of Genetic Conditions

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Goldberg-Shprintzen megacolon syndrome – KIF1BP

KIF1BP

multiple congenital abnormalities plus intellectual disability
Support Groups
Unknown

Mosaic variegated aneuploidy syndrome – BUB1B

BUB1B

multiple congenital abnormalities plus intellectual disability
Support Groups
Unknown

Oliver-McFarlane syndrome – PNPLA6

PNPLA6

multiple congenital abnormalities plus intellectual disability
Support Groups
Unknown

Opitz GBBB syndrome – MID1

MID1

multiple congenital abnormalities plus intellectual disability
Support Groups
Unknown

Opitz-Kaveggia syndrome – MED12

MED12

multiple congenital abnormalities plus intellectual disability
Support Groups
Unknown

Ohdo syndrome – MED12

MED12

multiple congenital abnormalities plus intellectual disability
Support Groups
Ohdo Syndrome Family Network

Kohlschutter-tonz syndrome – ROGDI

ROGDI

multiple congenital abnormalities plus intellectual disability
Support Groups
Unknown

Lujan-Fryns syndrome – MED12

MED12

multiple congenital abnormalities plus intellectual disability
Support Groups
Unknown

Intellectual developmental disorder with cardiac arrhythmia – GNB5

GNB5

multiple congenital abnormalities plus intellectual disability
Support Groups
Unknown

Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies – OTUD6B

OTUD6B

multiple congenital abnormalities plus intellectual disability
Support Groups
Unknown

Infantile liver failure syndrome – LARS

LARS

multiple congenital abnormalities plus intellectual disability
Support Groups
Unknown

Immunoskeletal dysplasia with neurodevelopmental abnormalities – EXTL3

EXTL3

multiple congenital abnormalities plus intellectual disability
Support Groups
Unknown
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