- five-year report B R I N G I N G I N N O V A T I O N T O L I F E
- Psychopharmacology (2004) 176: 386397 DOI 10.1007/s00213-004-1896-5
- Autosomal recessive primary microcephaly (MCPH): Congenital microcephaly (3 SD below the mean at birth or at least 4 SD below the mean at later ages)
- Clinical Features: Seckel syndrome (OMIM#210600) and Microcephalic Osteodysplastic Primordial Dwarfistm type II (MOPDII,
- Information for Patients and Families What is Sotos syndrome?
- Information for Patients and Families What is X-linked chondrodysplasia punctata?
- Clinical Features: Patients with Rubinstein-Taybi syndrome (RSTS) [OMIM #180849] have characteristic facial features, short
- Information for Patients and Families What do I need to know about testing my child for MCT8-specific thyroid hormone cell
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- Clinical Features: Features of patients with SLC9A6 mutations include mental retardation, microcephaly, truncal ataxia, grand mal
- Information for Patients and Families What do I need to know about testing my child for Cornelia de Lange syndrome?
- Clinical Features: Pitt-Hopkins syndrome (PHS) [OMIM #610954] is a severe congenital encephalopathy that occurs in
- Clinical Features: Centronuclear myopathy (CNM) is a rare muscle disease associated with non-progressive or slowly progressive
- Information for Patients and Families What do I need to know about genetic testing microcephaly for my child?
- Information for Patients and Families What do I need to know about testing for Wilson disease?
- Clinical Features: Prader-Willi syndrome (PWS) [OMIM #176270] is a genetic disorder which causes hypotonia and poor feeding in
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- Information for Patients and Families What do I need to know about testing my child for Robinow Syndrome?
- Clinical Features: The hallmark features seen in patients with OPHN1 mutations include moderate to severe mental retardation and
- Clinical Features: Patients with X-linked chondrodysplasia punctata (CDPX2) [OMIM #302960], also known as Happle syndrome or
- Clinical Features and Molecular Genetics: Mutations in the ARX gene have been identified in patients with X-linked lissencephaly with ambiguous genitalia
- Clinical Features: Wilson disease is characterized by
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- Clinical Features: Early infantile epileptic encephalopathy (EIEE) [MIM #308350], also known as Ohtahara syndrome, is a severe
- Uniparental disomy (UPD) describes a condition in which both homologs of a chromosome pair are derived from the same parent. UPD can be associated with phenotypic abnormalities if
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- Clinical Features: Angelman syndrome (AS) [OMIM #105830] is characterized by four essential features, demonstrated by all those
- Information for Patients and Families What do I need to know about testing myself or my child for centronuclear or myotubular
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- Clinical Features: Bernard-Soulier Syndrome (BSS) is a severe bleeding disorder characterized by a prolonged bleeding time,
- Clinical Features: Patients with Robinow syndrome (RS) [OMIM #268310] have characteristic facial features, growth
- Clinical Features: Charcot Marie Tooth Disease is a group of inherited neuropathies characterized by chronic motor and sensory
- Clinical Features: Crigler-Najjar syndromes (CN) are inborn disorders of the liver metabolism of bilirubin characterized by non-
- Clinical Features: Early infantile epileptic encephalopathy (EIEE), also known as Ohtahara syndrome, is a severe form of epilepsy
- Clinical Features: Mutations in GJB2 [OMIM#121011] are typically characterized by congenital, non-syndromic, and non-
- CHARGE syndrome: Coloboma Heart defect
- Clinical Features: Roberts syndrome (RBS) [OMIM #268300], also known as Roberts-SC phocomelia syndrome [OMIM #269000],
- Clinical Features: X-linked Female-limited Epilepsy with Mental retardation (EFMR, OMIM#300088) is characterized by seizure
- Clinical Features and Molecular Genetics: A woman has an 11-12% lifetime risk of developing breast cancer, and a 1% lifetime risk of developing ovarian
- Clinical Features: Mowat-Wilson syndrome (MWS) [OMIM # 235730] is characterized by distinctive facial features, which in young
- Clinical Features: Rett syndrome is a progressive neurodevelopmental disorder, primarily affecting females. Rett syndrome is
- Clinical Features: Patients with Cornelia de Lange syndrome (CdLS) [OMIM #122470] have characteristic facial features, growth
- Clinical Features: Pantothenate Kinase-Associated Neurodegeneration (PKAN) is one type of NBIA (neurodegeneration with brain
- Clinical Features: Seckel syndrome (OMIM#210600) and Microcephalic Osteodysplastic Primordial Dwarfistm type II (MOPDII,
- Clinical Features: Patients with X-linked recessive chondrodysplasia punctata (CDPX1) [OMIM #302950], also known as
- Clinical Features: Bilateral frontoparietal polymicrogyria (BFPP) [OMIM #606854] is characterized by moderate-severe mental
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- Clinical Features: Males with MCT8-specific thyroid hormone cell transporter (THCT) deficiency [OMIM #30523], also known as
- Clinical Features: Patients with Infantile Neuroaxonal Dystrophy (INAD) [OMIM #256600] have infantile onset of progressive
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- Clinical Features and Inheritance: Severe, de novo phenotype in females: X-linked mental retardation and microcephaly with pontine and cerebellar
- Information for Patients and Families What do I need to know about testing myself or my child for Charcot Marie Tooth disease?
- Clinical Features: Patients with neuroferritinopathy, also called neurodegeneration with brain iron accumulation, type 2, (NBIA2) or
- Information for Non-genetics Professionals Clinical Features
- Clinical Features, Molecular Genetics, and Inheritance: Dilated cardiomyopathy (DCM) is a severe disease of heart muscle characterized by progressive
- Clinical Features: CDKL5 mutations have been demonstrated in a broad spectrum of phenotypes [1-5], including
- Clinical Features: Gilbert syndrome Gilbert syndrome is characterized by mild, chronic, unconjugated hyperbilirubinemia
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- Clinical Features: Similar to other types of pontocerebellar hypoplasias (PCH), subtypes PCH2 (OMIM 277470) and PCH4 (OMIM
- Information for Patients and Families What do I need to know about testing my child for GPR56-related bilateral frontoparietal
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- Clinical Features: Oral-facial-digital syndrome, type 1
- Clinical Features: Sotos syndrome is characterized by characteristic facial features, developmental delay, and increased height and
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- Clinical Features: Mutations of the MEF2C gene [OMIM # 600662] have been identified in patients with severe mental retardation,
- Information for Patients, Families, and Non-Genetic Professionals What do I need to know about testing my child for oral-facial-digital syndrome, type 1?
- Clinical Features: Permanent neonatal diabetes: Neonatal diabetes is hyperglycemia that presents at 0-6 months of age
- Information for Patients and Families What is Angelman syndrome?
- Clinical Features: Rett syndrome [OMIM #312750] is a progressive neurodevelopmental disorder, primarily affecting females.
- Clinical Features: Patients with CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects
- Clinical Features: The hallmark feature seen in patients with TUBB2B mutations is asymmetric polymicrogyria (PMG) [OMIM
- University of Chicago The Committee on Genetics, Genomics
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- Clinical Features: Mutations in the NKX2.5 gene [OMIM #600584, 108900] have been described in numerous families with inherited
- GUIDANCE October 2011 TRANSPORTING MEDICAL RECORDS
