Table 3. DYSCERNE consensus diagnoses.

Consensus syndromic diagnosis	Estimated prevalence	Transmission	Genetic cause
Acro-cardio-facial	<1/1 000 000	AR	Unknown
Association of constriction rings and malformations	Unknown	Unknown	Unknown
Bohring–Opitz	<1/1 000 000	AD	Known
Börjeson–Forssman–Lehman	Unknown	XR	Known
Bosma arhinia	<1/1 000 001	Unknown	Unknown
Brachydactyly–mental retardation	<1/1 000 000	Sporadic	Known
BRWD3 mental retardation	Unknown	XR	Known
Cerebro-Oculo-Facial	<1/1 000 000	AR	Known
Chromosome abnormality	Unknown	AD	Known
Coffin–Lowry	1-9/100 000	XD	Known
Congenital myopathy	Unknown	heterogeneous	Heterogeneous
Cornelia De Lange	1-9/100 000	heterogeneous	Heterogeneous
Encephalocraniocutaneous Lipomatosis	<1/1 000 000	AD	Unknown
Fetal alcohol	Unknown	—	Known
Gingival overgrowth, hypertrichosis, mental retardation, epilepsy	Unknown	heterogeneous	Unknown
Gomez–Lopez–Hernandez	Unknown	Unknown	Unknown
Kabuki	1–9/100 000	Heterogeneous	Heterogeneous
Kleefstra	Unknown	AD	Known
Lamin A/C deficiency	<1/1 000 000	AD	Known
Macrocephaly-Cutis Marmorata Telangectasia Congenita (M-CMTC)	<1/1 000 000	AD	Unknown
Meier–Gorlin	<1/1 000 000	AR	Heterogeneous
Mowat–Wilson	<1/1 000 000	AD	Known
Mucopolysaccharidosis	Unknown	AR	Heterogeneous
MULIBREY	<1/1 000 000	AR	Known
Multiple sulphatase deficiency	<1/1 000 000	AR	Known
Myhre	<1/1 000 000	AD	Known
New syndrome	Unknown	AR	unknown
Noonan-like syndrome with loose anagen hair	<1/1 000 000	AD	Known
RAS-Mapk disorder	Unknown	AD	Known
Robinow	Unknown	AD	Heterogeneous
Rothmund–Thomson	<1/1 000 000	AR	Known
SAPHO	Unknown	Unknown	unknown
Say–Barber–Biesecker variant of blepharophimosis/mental retardation	<1/1 000 000	AD	Heterogeneous
Sensenbrenner	Unknown	AR	Known
SHORT	<1/1 000 000	AD	unknown
Townes–Brocks	1–9/1 000 000	AD	Known
Trichotiodystrophy	Unknown	AR	Heterogeneous
Weaver	<1/1 000 001	AD	Known
Zimmermann–Laband	Unknown	AD	unknown

Abbreviations: AD, autosomal dominant; AR, autosomal recessive; XD, X-linked dominant; XR, X-linked recessive.