Table 2. [Syndromes with Early-Onset Mirror Movements]. - GeneReviews®

Disorder	Gene(s)	MOI	Mirror Movements	Other Features
ANOS1 Kallmann syndrome (KS) (See Isolated GnRH Deficiency.)	ANOS1 (KAL1)	XL	MM in persons w/KS is almost always linked to ANOS1 ¹ (ANOS1-KS accounts for ~5%-10% of isolated GnRH deficiency). Prevalence of MM in KAL1-KS is 75%. ¹	Hyposmia & hypogonadotropic hypogonadism
Joubert syndrome	≥34 genes	AR XL ²	CMM is observed in some affected persons. ³	Hypoplasia of cerebellar vermis w/characteristic neuroradiologic molar tooth sign & variable accompanying neurologic symptoms
Klippel-Feil syndrome (KFS) (OMIM PS118100) ⁴	GDF3 GDF6 MEOX1 MYO18B	AD AR	MM is present in minority of persons w/KFS (MM is likely linked to cervicomedullary neuroschisis).	Congenital fusion of cervical vertebrae Typical phenotype incl low posterior hairline, short neck, & ↓ amplitude of neck movements
Moebius syndrome (OMIM 157900)	Unknown	AD	MM is only occasionally reported. ⁵	Minimum criteria are congenital, non-progressive facial weakness in assoc w/limited abduction of 1 or both eyes.
Nevoid basal cell carcinoma syndrome (Gorlin syndrome)	PTCH1 (PTCH2) ⁶ SUFU	AD	MM reported in 1 person ⁷	Multiple basal cell carcinomas, jaw keratocysts, & skeletal malformations
Seckel syndrome (OMIM PS210600)	ATR CENPJ CEP152 CEP63 DNA2 NIN NSMCE2 RBBP8 TRAIP	AR	1 reported person w/MM ⁸	Primary microcephaly, intellectual disability, & often prenatal-onset growth restriction
Wildervanck syndrome (OMIM 314600)	Unknown	XL?	1 reported person w/MM ⁹	Klippel-Feil syndrome w/congenital perceptive deafness & Duane syndrome ¹⁰ Affected persons are almost exclusively female.

Disorder

Gene(s)

MOI

Mirror Movements

Other Features

ANOS1 Kallmann syndrome (KS) (See Isolated GnRH Deficiency.)

ANOS1 (KAL1)

MM in persons w/KS is almost always linked to ANOS1 ¹ (ANOS1-KS accounts for ~5%-10% of isolated GnRH deficiency).
Prevalence of MM in KAL1-KS is 75%. ¹

Hyposmia & hypogonadotropic hypogonadism

Joubert syndrome

≥34 genes

AR
XL ²

CMM is observed in some affected persons. ³

Hypoplasia of cerebellar vermis w/characteristic neuroradiologic molar tooth sign & variable accompanying neurologic symptoms

Klippel-Feil syndrome (KFS) (OMIM PS118100) ⁴

GDF3
GDF6
MEOX1
MYO18B

AD
AR

MM is present in minority of persons w/KFS (MM is likely linked to cervicomedullary neuroschisis).

Congenital fusion of cervical vertebrae
Typical phenotype incl low posterior hairline, short neck, & ↓ amplitude of neck movements

Moebius syndrome (OMIM 157900)

Unknown

MM is only occasionally reported. ⁵

Minimum criteria are congenital, non-progressive facial weakness in assoc w/limited abduction of 1 or both eyes.

Nevoid basal cell carcinoma syndrome
(Gorlin syndrome)

PTCH1
(PTCH2) ⁶
SUFU

MM reported in 1 person ⁷

Multiple basal cell carcinomas, jaw keratocysts, & skeletal malformations

Seckel syndrome
(OMIM PS210600)

ATR
CENPJ
CEP152
CEP63
DNA2
NIN
NSMCE2
RBBP8
TRAIP

1 reported person w/MM ⁸

Primary microcephaly, intellectual disability, & often prenatal-onset growth restriction

Wildervanck syndrome (OMIM 314600)

Unknown

XL?

1 reported person w/MM ⁹

Klippel-Feil syndrome w/congenital perceptive deafness & Duane syndrome ¹⁰
Affected persons are almost exclusively female.

From: Congenital Mirror Movements

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