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Category: Brain

40 results
MKS - Meckel-Gruber syndrome MKS - Meckel-Gruber syndrome
OFD - Orofaciodigital syndrome OFD - Orofaciodigital syndrome
Cardio-Facio-Cutaneous syndrome Cardio-Facio-Cutaneous syndrome
Leukencephalopathy Leukencephalopathy
Adult-onset Leukencephalopathy Adult-onset Leukencephalopathy
Glioma Glioma
Sotos syndrome Sotos syndrome
Noonan syndrome with multiple lentigines Noonan syndrome with multiple lentigines
FIBGC - Familial idiopathic basal ganglia calcification FIBGC - Familial idiopathic basal ganglia calcification
Skeletal dysplasias with joint dislocations Skeletal dysplasias with joint dislocations
AD, FAD, EOFAD - Alzheimer disease AD, FAD, EOFAD - Alzheimer disease
Cleidocranial dysplasia Cleidocranial dysplasia
Kabuki syndrome Kabuki syndrome
Angelman-like syndromes Angelman-like syndromes
TSC - Tuberous sclerosis complex (TSC) TSC - Tuberous sclerosis complex (TSC)
ACLS - Acrocallosal syndrome ACLS - Acrocallosal syndrome
Macrocephaly Macrocephaly
JBTS - Joubert syndrome JBTS - Joubert syndrome
RSTS, RTS - Rubinstein-Taybi syndrome RSTS, RTS - Rubinstein-Taybi syndrome
PCH - Pontocerebellar hypoplasia PCH - Pontocerebellar hypoplasia
FTD - Dementia FTD - Dementia
CCM - Cerebral cavernous malformations CCM - Cerebral cavernous malformations
CdLS - Cornelia de Lange syndrome CdLS - Cornelia de Lange syndrome
Microangiopathy Microangiopathy
PD - Parkinson disease, Morbus Parkinson, Parkinsonism PD - Parkinson disease, Morbus Parkinson, Parkinsonism
CS - Cockayne syndrome CS - Cockayne syndrome
HPE - Holoprosencephaly HPE - Holoprosencephaly
Craniosynostoses Craniosynostoses
Lissencephaly Lissencephaly
Costello syndrome Costello syndrome
Neurofibromatosis and Schwannomatosis Neurofibromatosis and Schwannomatosis
Noonan syndrome Noonan syndrome
NCL - Neuronal ceroid lipofuscinosis NCL - Neuronal ceroid lipofuscinosis
Neuroblastoma Neuroblastoma
Medulloblastoma Medulloblastoma
FHM,SHM,HM - Familial hemiplegic migraine, FHM,SHM,HM - Familial hemiplegic migraine,
WWS - Walker-Warburg syndrome WWS - Walker-Warburg syndrome
NBIA - Neurodegeneration with brain iron accumulation NBIA - Neurodegeneration with brain iron accumulation
MCPH - Microcephaly MCPH - Microcephaly
AGS - Aicardi-Goutières syndrome AGS - Aicardi-Goutières syndrome
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