Table 3.

UDP diagnoses^a

Frequency	UDP #	Age (y)	Sex	Diagnosis	Basisb	Comment
New diseases	797	54	F	ACDC	C,P,B, Ms	NT5E mutations
	1103	51	M	ACDC	C, Ms	NT5E mutations
	1112	49	F	ACDCc	C,P,B, Ms	NT5E mutations
	1433	44	F	ACDC	C, MS	NT5E mutations
	1889	53	M	ACDC	C, Ms	NT5E mutations
	2457	44	F	ACDC	C,B,P, MT	NT5E mutations
	1706	44	F	Familial distal myopathy	C,P, ME	HINT3 mutation
<60 cases reported	283	48	F	Leucodystrophy with axonal spheroids	C,P
	338	14	M	Spinocerebellar Ataxia and Hereditary Spastic Paraplegia	C,P,B,ME	Only case of biallelic AFG3L2 mutations
	499	7	F	Pitt-Hopkins syndrome	C,MT	TCF4 mutation
	563	3	M	Hereditary Benign Intraepithelial Dyskeratosis	C,P,Ms	4q35.2 duplication
	887	5	F	Congenital Disorder of Glycosylation IIb	C,B,MT	Glucosidase I deficiency; sib of 1248
	1173	48	M	Autosomal Dominant Cerebellar Ataxia	C,P,Ms	LMNB1 duplication
	1248	10	M	Congenital Disorder of Glycosylation lib	C,B,MT	Glucosidase I deficiency
	2226	38	F	Aceruloplasmin-emia	C,B,MT	Cp mutations; neurological involvement
<1/100,000	333	45	F	Facial dysautonomia	C
	357	36	M	Hereditary Spastic Paraplegia	C,MT	SPG4 mutations
	608	4	F	Smith-Magenis syndrome	C,MT	RAH mutation
	679	31	F	CSF tetrahydro-biopterin deficiency	C,B	Incidental to devastating cerebral deficits
	752	41	F	Immune-mediated cerebellar degeneration	C,P	Responded to rituximab
	984	17	F	GM1 gangliosidosis	C,B,ME	Normal initial enzyme activity
	997	53	F	Amyloid myopathy	C,B,P	Multiple myeloma
	1074	45	M	Amyotrophic lateral sclerosis	C,MT	SOD1 mutation found
	1262	46	M	Progressive Spastic Paraparesis	C,MT	SPG7 mutations
	1857	24	F	CSF tetrahydro-biopterin deficiency	C,B	Responded to treatment
	1924	36	F	Call-Fleming syndrome	C,P
1–10/100,000	714	40	M	Primary Progressive Multiple Sclerosis	C,P
	1155	29	M	Neuromyelitis Optica	C
	2019	69	M	Progressive Supranuclear Palsy & Corticobasal Ganglia Degeneration	C
	2566	57	M	Corticobasal Ganglionic Degeneration	C
Common	368	35	F	Fibromyalgia	C
	800	36	F	Fibromyalgia	C
	855	56	F	Psychogenic tic cough	C
	932	44	F	Somatization	C
	936	47	M	Morgellon's disease	C
	1137	54	F	Multiple myeloma	C,P
	1628	54	F	Functional gait disorder	C
	1868	19	F	Psychogenic movement disorder	C
	1913	36	M	Fibromyalgia	C

^aIf a diagnosis was already suggested by the referring center, confirming that diagnosis was not sufficient to claim success.

^bC, Clinical; P, Pathological; B, Biochemical; M^s, Molecular-SNP; M^E, Molecular-Whole Exome; M^T, Molecular-Targeted Sequencing

^cACDC, Arterial Calcifications due to CD73 Deficiency; cases 1112, 797, 1433, 1103, and 1889 are sibs.

^dNA, not available.