Table B.

OMIM Entries for Joubert Syndrome (View All in OMIM)

213300JOUBERT SYNDROME 1; JBTS1
243910ARIMA SYNDROME
300170OFD1 CENTRIOLE AND CENTRIOLAR SATELLITE PROTEIN; OFD1
300804JOUBERT SYNDROME 10; JBTS10
602676PHOSPHODIESTERASE 6D; PDE6D
604557ZINC FINGER PROTEIN 423; ZNF423
607100NEPHROCYSTIN 1; NPHP1
607386INTRAFLAGELLAR TRANSPORT 172; IFT172
608091JOUBERT SYNDROME 2; JBTS2
608629JOUBERT SYNDROME 3; JBTS3
608894ABELSON HELPER INTEGRATION SITE 1; AHI1
608922ADP-RIBOSYLATION FACTOR-LIKE GTPase 13B; ARL13B
609583JOUBERT SYNDROME 4; JBTS4
609863TECTONIC FAMILY, MEMBER 1; TCTN1
609883MKS TRANSITION ZONE COMPLEX SUBUNIT 1; MKS1
609884TRANSMEMBRANE PROTEIN 67; TMEM67
610142CENTROSOMAL PROTEIN, 290-KD; CEP290
610178KIAA0586 GENE; KIAA0586
610188JOUBERT SYNDROME 5; JBTS5
610523CENTROSOMAL PROTEIN, 41-KD; CEP41
610688JOUBERT SYNDROME 6; JBTS6
610937RPGRIP1-LIKE; RPGRIP1L
611254KINESIN FAMILY MEMBER 7; KIF7
611560JOUBERT SYNDROME 7; JBTS7
611654CENTROSOME SPINDLE POLE-ASSOCIATED PROTEIN 1; CSPP1
611951B9 DOMAIN-CONTAINING PROTEIN 2; B9D2
612013COILED-COIL AND C2 DOMAINS-CONTAINING PROTEIN 2A; CC2D2A
612014TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 21B; TTC21B
612285JOUBERT SYNDROME 9; JBTS9
612291JOUBERT SYNDROME 8; JBTS8
613037INOSITOL POLYPHOSPHATE-5-PHOSPHATASE, 72-KD; INPP5E
613277TRANSMEMBRANE PROTEIN 216; TMEM216
613446CENTROSOMAL PROTEIN, 120-KD; CEP120
613820NEPHRONOPHTHISIS 12; NPHP12
613846TECTONIC FAMILY, MEMBER 2; TCTN2
613847TECTONIC FAMILY, MEMBER 3; TCTN3
614144B9 DOMAIN-CONTAINING PROTEIN 1; B9D1
614173JOUBERT SYNDROME 13; JBTS13
614423TRANSMEMBRANE PROTEIN 237; TMEM237
614424JOUBERT SYNDROME 14; JBTS14
614459TRANSMEMBRANE PROTEIN 138; TMEM138
614464JOUBERT SYNDROME 15; JBTS15
614465JOUBERT SYNDROME 16; JBTS16
614571CILIOGENESIS AND PLANAR POLARITY EFFECTOR COMPLEX, SUBUNIT 1; CPLANE1
614615JOUBERT SYNDROME 17; JBTS17
614784POC1 CENTRIOLAR PROTEIN B; POC1B
614815JOUBERT SYNDROME 18; JBTS18
614844NEPHRONOPHTHISIS 14; NPHP14
614949TRANSMEMBRANE PROTEIN 231; TMEM231
614970JOUBERT SYNDROME 20; JBTS20
615636JOUBERT SYNDROME 21; JBTS21
615665JOUBERT SYNDROME 22; JBTS22
615944C2 CALCIUM-DEPENDENT DOMAIN-CONTAINING PROTEIN 3; C2CD3
616183TRANSMEMBRANE PROTEIN 107; TMEM107
616490JOUBERT SYNDROME 23; JBTS23
616650KATANIN-INTERACTING PROTEIN; KATNIP
616654JOUBERT SYNDROME 24; JBTS24
616690CENTROSOMAL PROTEIN, 104-KD; CEP104
616781JOUBERT SYNDROME 25; JBTS25
616784JOUBERT SYNDROME 26; JBTS26
617120JOUBERT SYNDROME 27; JBTS27
617121JOUBERT SYNDROME 28; JBTS28
617761JOUBERT SYNDROME 31; JBTS31

From: Joubert Syndrome

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