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Angelman Syndrome
Angelman syndrome
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Syndromes
(16)
Prader Willi syndrome
Cri du chat syndrome
Rett syndrome
Williams syndrome
22q11.2 deletion syndrome
22q11.2 deletion syndrome
Fragile x syndrome
West syndrome
Sanfilippo syndrome
Cornelia de Lange syndrome
Edwards syndrome
Androgen insensitivity syndrome
Turner syndrome
Apert syndrome
Mowat-Wilson syndrome
Syndrome
Smith-Magenis syndrome
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Disability
Neurological disorders
Developmental delay
Mental retardation
Autism
Prader Willi syndrome
Fragile x syndrome
Neurological disorders
(9)
Aicardi syndrome
Progressive sclerosing poliodystrophy
Cerebellar ataxia
Intracranial cyst
Friedreich ataxia
Friedreich ataxia
Apraxia
Fragile x syndrome
West syndrome
Autism
more...
Rare diseases
Arthrogryposis
Alexander disease
Pompe disease
Cri du chat syndrome
Williams syndrome
Sanfilippo syndrome
Mowat-Wilson syndrome
Genetic disorders
(35)
Chromosome abnormalities
Adrenoleuk- odystrophy
Microcephaly
Microdeletion
Trisomy
Trisomy
Andersen-Tawil syndrome
Homocystinuria
Beckwith wiedemann syndrome
Ataxia telangiectasia
Chromosome 15q partial deletion
Genetic disorder
Galactosemia
Achondroplasia
VATER syndrome
Acrocephal- opolysyndactyly
Tuberous sclerosis
Monosomy
Prader Willi syndrome
Aicardi syndrome
Cri du chat syndrome
Rett syndrome
Williams syndrome
22q11.2 deletion syndrome
Fragile x syndrome
Sanfilippo syndrome
Cornelia de Lange syndrome
Edwards syndrome
Androgen insensitivity syndrome
Turner syndrome
Alexander disease
Apert syndrome
Mowat-Wilson syndrome
Pompe disease
Smith-Magenis syndrome
Friedreich ataxia
more...
Medical condition
(48)
Uniparental disomy
Anemia, hemolytic
Hypotonia
Aniridia
Hemifacial atrophy progressive
Hemifacial atrophy progressive
Labhart-willi syndrome
Atelosteogenesis type 2
Hypopigmentation
Phytanic acid storage disease
Feeding difficulties
Progressive supranuclear palsy
Frontonasal dysplasia
Hyperlexia
Floating harbor syndrome
Temporal arteritis
Acanthoche- ilonemiasis
Selective mutism
Agenesis of corpus callosum
Prader Willi syndrome
Cri du chat syndrome
Progressive sclerosing poliodystrophy
Chromosome abnormalities
22q11.2 deletion syndrome
Microcephaly
Fragile x syndrome
West syndrome
Sanfilippo syndrome
Arthrogryposis
Cornelia de Lange syndrome
Intracranial cyst
Edwards syndrome
Androgen insensitivity syndrome
Homocystinuria
Beckwith wiedemann syndrome
Ataxia telangiectasia
Chromosome 15q partial deletion
Alexander disease
Apert syndrome
Mental retardation
Pompe disease
Autism
Galactosemia
Achondroplasia
VATER syndrome
Friedreich ataxia
Acrocephal- opolysyndactyly
Tuberous sclerosis
Apraxia
more...
Neurology
(9)
Acquired epileptiform aphasia
Myoclonic Encephalopathy of infants
Ramsay Hunt syndrome type I
Neurological disorders
Rett syndrome
Rett syndrome
Adrenoleuk- odystrophy
Aniridia
Progressive supranuclear palsy
Temporal arteritis
more...
Chromosome 15 (human)
NIPA1
NIPA2
Prader-Willi syndrome
Cytogenetics
(20)
Aneuploidy
Autosome
Chromosomal translocation
Chromosome
Chromosome abnormalities
Chromosome abnormalities
Colcemid
Fluorescent in situ hybridization
Fragile sites
Germ plasm
Homologous chromosome
Karyotype
Monosomy
Ploidy
Pseudoautosomal region
Robertsonian translocation
Synapsis
Tetrasomy
Trisomy
Uniparental disomy
X chromosome
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Genetics
(8)
Mosaicism
Epigenetic
Clinical genetics
Genetic disorders
Aniridia
Aniridia
Microdeletion
Chromosome analysis
Genetic disorder
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See also
(20)
Diseases and disorders
UBE3A
Genomic imprinting
MeCP2
SNRPN
SNRPN
Hirayama syndrome
Angiomatosis
Friedreich
Ubiquitin
Mutation analysis
Paternally
Delayed development
Speech impairment
SNURF
Rem sleep behavior disorder
Kim Bordenave
Ubiquitin ligase
Oculocutaneous albinism
Critical region
Autosomal recessive
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