Table of Contents
A
Aicardi
Aicardi-Goutieres
Andermann
Angelman
Anton
Apert
Avellis
B
Balint
Bannwarth
Bardet-Biedl
Bassen-Kornzweig
Benedikt
Bobble-head Doll
Brainstem (Table)
Brown-Sequard
Brueghel
Burning Feet
C
Cadasil
Capgras
Cayler Cardiofacial
Central Cord
CHARGE
Charles Bonnet (CBS)
Chiasmal
Churg-Strauss
Claude
CockayneCoffin-Lowry
Cohen
Cornelia de Lange
Cornelia de Lange II
Costen
Cowden Cranial Nerve (Table)
CRASH (MASA)
Crit du Chat
Crouzon
D
Dandy Walker
DDON (Deafness-Dystonia-Optic Neuronopathy)
Dejerine-Roussy
Dejerine (Table)
De Morsier
DiGeorge
Donnai-Barrow
Doose
Dravet
Duane
E
Edwards
Elsberg
Empty Sella (ESS)
Epidermal Nevus
Epilepsy (Electroclinical) (Table)
F
Fazio-LondeFeingold
Ferguson-Critchley
Fetal Alcohol
Foix-Alajouanine
Foix-Chavany-Marie
Foster-Kennedy
Foville
Fragile X
Fragile X-Associated Tremor/Ataxia
Froehlich
Froin
G
Ganser
Garcin
Gerstmann
Goldenhar
Gorlin
Gradenigo
Greig Cephalopolysyndactyly
Guillain-Barre
H
Hallermann-Streiff
HARP
Haw River
Heerfordt
Herpes Zoster Oticus
Hopkins
Holmes-Adie
Horner
HHH
I
Isaacs
J
Jackson
Jackson-Weiss
Jacobsen
Janz
Jervell-Lange-Nielsen
Joubert
Juberg-Marsidi
K
Kabuki
Kallmann
Kearns-Sayre (KSS)
Kinsbourne
Kjellin
Kleefstra
Klein-Levin
Klinefelter
Klippel-Feil
Klippel-Trenaunay-Weber
Kluver-Bucy
Kocher-Debre Semelaigne
L
Lambert-Eaton
Lance-Adams
Landau-Kleffner
Leigh
Lennox-Gastaut
Lenz Microphthalmia (LMS)
Lesch-Nyhan
Lewis-Sumner
Locked-in
Loeys-Dietz
Lowe
M
Marcus Gunn
Marfan
Marin Amat
Marin Amat
Marinesco-Sjorgen
MASA
McLeod Neuroacanthocytosis
Meckel-Gruber
MECP2 Duplication
Meige
MELAS
Melkersson-Rosenthal
MERRF
Microphthalmos with Linear Skin Defects (MLS)
Millard-Gubler
Miller-Dieker
Miller-Fisher
Mitochondrial DNA Deletion (MDDS)
Mobius
Mohr-Tranebjaerg
Morvan
Moschcowitz
Mowat-Wilson
MPV17-related Hepatocerebral MDDS
Muenke
N
Neuroleptic Malignant
Nijmegen Breakage
Noonan
Nothnagel
O
OHAHA
Ohtahara
Opitz
Opsoclonus Myoclonus
Oral-Facial-Digital Type 1
Osler-Weber-Rendu
P
Pallister-Hall
Panayiotopoulos
Paraneoplastic
Parinaud
Parry-Romberg
Parsonage-Turner
Patau Trisomy 13
PEHO
Pena-Shokeir
Pendred (DFNB4)
Perry
Pfeiffer Type 2
PHACES
Phelan-McDermid
Pitt-Hopkins
POEMS
PolandPrader-Willi
Proteus
R
Raeder's Paratrigeminal
Ramsay Hunt Type I
Ramsay Hunt Type II
Rasmussen
Renpenning
Rett
Reye
Riley-Day
Rosenberg-Chutorian
Roussy-Levy
Rubinstein-Taybi
Russell-Silver
S
Saethre-Chotzen
Sandifer
Satoyoshi
Schimmelpenning-Feuerstein-Mims
Schneider
Schwarts-Bartter
Schwartz-Jampel Type 1