Table 1. List of congenital olfactory dysfunctions.

Known ciliopathies demonstrating olfactory dysfunction are listed #’s 1 through 10.

#	Disease	Known Genetic Mutations	Confirmed Olfactory Dysfunction	Known Cause of Olfactory Dysfuntion	References
1	Bardet-Beidl Syndrome (BBS)	BBS1, BBS1(M390R), BBS2, BBS3/ARL6, BBS4, BBS5, BBS6/MKKS, BBS7, TTC8, BBS9, BBS10, TRIM32, BBS12, CEP290/NPHP6	BBS1, BBS1(M390R), BBS2, BBS4, BBS6/MKKS, BBS8	Olfactory epithelium (cilia loss)	^{18, 20, 25, 124, 125, 126}
2	Meckel-Gruber Syndrome (MKS)	MKS1, MKS2, MKS3/TMEM67, CEP290/NPHP6, BBS1, BBS4, NPHP3	MKS1, MKS3/TMEM67, CEP290/NPHP6	Olfactory epithelium (signal transduction)	^{19, 126, 127, 128}
3	Joubert Syndrome	CEP290/NPHP6, ARL13b, INPP5e	CEP290/NPHP6	???	^{19, 126, 129, 130, 131}
4	McKusick-Kaufman Syndrome	BBS6/MKKS	BBS6/MKKS	???	²⁴
5	Refsum Disease	PEX7, PHYH	???	???	^{132, 133}
6	Polycystic Kidney Disease (PKD)	PKD1, PKD2, NPHP3, IFT88	PKD1, PKD2, IFT88	Olfactory epithelium (cilia loss; IFT88)	^{21, 128}
7	Primary Ciliary Dyskinesia (PCD)	DNAI1, DNAH5	???	Olfactory epithelium (airway obstruction)	134
8	Leber Congenital Amaurosis (LCA)	CEP290/NPHP6, GUCY2D, RPE65, SPATA7, AIPL1, LCA5, RPGRIP1, CRX, CRB1, NMNAT1, IMPHD1, RD3, RDH12, LRAT, TULP1, KCNJ13, GDF6, PRPH2, LCA9, LCA3	CEP290/NPHP6	Olfactory epithelium (signal transduction; airway obstruction)	^{19, 126, 135}
9	Jeune Syndrome	IFT80, DYNC2H1, WDY19, IFT40, TTC21B	???	???	¹³⁶
10	Nephronophthisis	CEP290/NPHP6	CEP290/NPHP6	???	¹²⁶
11	Kallmann’s Syndrome	KAL1, AKAP2, FGF8, FGFR1, KISS1R, PROK2/PROKR2, NELF, TAC3, TACR3, WDR11	KAL1, FGFR1, PROK2/PROKR2, FGF8, CHD7, WDR11, NELF	Olfactory bulb development	^{137, 138, 139, 140, 141, 142}
12	CHARGE Syndrome	CHD7	CHD7	???	^{143, 144}
13	Usher Syndrome	USH1C, USH1B/MYO7A, CDH23, USH2/USH2A, PCDH15, CLRN1, SANA, USH1H, VLGF1b, DFNB31, PDZD7, USH3A	USH1	Olfactory bulb development	^{145, 146, 147, 148, 149}
14	Microcephalic osteodysplastic primordial dwarfism type II (MOPDII)	PCNT	???	Olfactory bulb development	¹⁵⁰
15	Seckel Syndrome	ATR, PCNT, CENPJ	???	???	^{21, 150, 151}
16	Bosma Arhinia Microphthalmia	PAX6	???	Olfactory epithelium (airway obstruction); Olfactory bulb development	^{152, 153}
17	Endocrine-Cerebro-Osteodysplasia	ICK	???	Olfactory bulb development	¹⁵⁴
18	Mohr-Majewski Syndrome	TCTN3	???	Olfactory bulb development	^{155, 156, 157}
19	Isolated Congenital Anosmia	CNGA2, TENM1	CNGA2, TENM1	Olfactory epithelium (signal transduction)	^{158, 159, 160}
20	Congenital Indifference to Pain	SCN9A	SCN9A	Olfactory epithelium (action potential propagation)	¹⁶¹