1p36 deletion syndrome
|
(Orphanet:1606)
|
ANGIOMATOSIS, DIFFUSE CORTICOMENINGEAL, OF DIVRY AND VAN BOGAERT
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(OMIM:206570)
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Alpers syndrome
|
(Orphanet:726)
|
BRESEK syndrome
|
(Orphanet:85284)
|
CADASIL
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(Orphanet:136)
|
Canavan disease
|
(Orphanet:141)
|
Charcot-Marie-Tooth disease type 4B3
|
(Orphanet:363981)
|
Congenital brain dysgenesis due to glutamine synthetase deficiency
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(Orphanet:71278)
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Congenital ichthyosis - intellectual deficit - spastic quadriplegia
|
(Orphanet:352333)
|
Gaucher disease type 2
|
(Orphanet:77260)
|
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES
|
(OMIM:615966)
|
Ichthyosis follicularis - alopecia - photophobia
|
(Orphanet:2273)
|
Leber plus disease
|
(Orphanet:99718)
|
Leukoencephalopathy - thalamus and brainstem anomalies - high lactate
|
(Orphanet:314051)
|
MEGDEL syndrome
|
(Orphanet:352328)
|
Microcephaly-capillary malformation syndrome
|
(Orphanet:294016)
|
NARP syndrome
|
(Orphanet:644)
|
Perrault Syndrome 3
|
(OMIM:614129)
|
Peters-plus syndrome
|
(Orphanet:709)
|
Purine nucleoside phosphorylase deficiency
|
(Orphanet:760)
|
Renpenning syndrome
|
(Orphanet:3242)
|
SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION,LETHAL
|
(OMIM:602613)
|
Wolfram syndrome 1
|
(OMIM:222300)
|
Xeroderma pigmentosum complementation group F
|
(Orphanet:276264)
|