Disease: Microcephaly deafness syndrome
- <em>SEC31A</em> mutation affects ER homeostasis, causing a neurological syndrome
- "Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype
- 8q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable Epilepsy
- A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb
- A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay
- A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation
- A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly
- A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness
- A patient with 9q subtelomeric deletion syndrome with additional findings
- A possible cranio-oro-facial phenotype in Cockayne syndrome
- A review of craniofacial disorders caused by spliceosomal defects
- A Review of the Clinical Features and Management of Systemic Congenital Mastocytosis through the Presentation of An Unusual Prenatal-Onset Case
- Altered distribution of ATG9A and accumulation of axonal aggregates in neurons from a mouse model of AP-4 deficiency syndrome
- An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes
- An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria
- An unusual neurological syndrome of crawling gait, dystonia, pyramidal signs, and limited speech
- ATP6V1B2-related epileptic encephalopathy
- Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
- BCAP31-associated encephalopathy and complex movement disorder mimicking mitochondrial encephalopathy
- Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism
- Bilateral pheochromocytomas and congenital anomalies associated with a de novo germline mutation in the von Hippel-Lindau gene
- Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive
- Caribbean Community establishes rubella elimination goal. Resolution on the elimination of rubella
- Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss
- CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases
- Choanal stenosis, hypothelia, deafness, recurrent dacryocystitis, neck fistulas, short stature, and microcephaly: report of a case
- Chromosome 11q13 deletion syndrome
- Clinical and genetic analysis of a patient with Baraitser-Winter syndrome due to variant of ACTG1 gene
- Clinical case analysis and literature review of mandibulofacial dysostosis with microcephaly syndrome
- Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease
- Clinical diagnose and significance of congenital sensorineural hearing loss combined with BPES
- Cockayne Syndrome
- Cockayne syndrome: Clinical features, model systems and pathways
- Combined Oxidative Phosphorylation Deficiency Type-13 with Perinatal Presentation: A Case Report
- Congenital atrichia and hypotrichosis
- Congenital myopathy, recurrent secretory diarrhea, bullous eruption of skin, microcephaly, and deafness: a new genetic syndrome?
- Craniofacial microsomia: Reflections on diagnosis and severity assessment based on a series of cases
- De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
- De Sanctis-Cacchione syndrome
- De Sanctis-Cacchione Syndrome with Subdural Effusion: A Rare Case from India with Review of Literature
- Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability
- Duodenal stenosis, a new finding on congenital rubella syndrome: case description and literature review
- Early therapeutic trials for retinitis pigmentosa
- EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum
- ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination
- Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1)
- Feingold syndrome: clinical review and genetic mapping
- Fetal alcohol syndrome: a prospective national surveillance study
- Ganglioside GM3 Synthase Deficiency in Mouse Models and Human Patients
- Genetic factors in isolated and syndromic esophageal atresia
- Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions
- Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans
- Homozygous Autosomal Recessive <em>DIAPH1</em> Mutation Associated with Central Nervous System Involvement and Aspergillosis: A Rare Case
- IGF1 molecular anomalies demonstrate its critical role in fetal, postnatal growth and brain development
- Incidence of congenital rubella syndrome at a hospital serving a predominantly Hispanic population, El Paso, Texas
- Inv dup del(4)(:p13-->p16.3::p16.3-->qter) in a girl without typical manifestations of Wolf-Hirschhorn syndrome
- Inv dup del(4)(:p13-->p16.3::p16.3-->qter) in a girl without typical manifestations of Wolf-Hirschhorn syndrome
- Johanson-Blizzard Syndrome: A Case Report From Bahrain With a Literature Review
- Kleefstra Syndrome with Severe Sensory Neural Deafness and <em>De Novo</em> Novel Mutation
- Kleefstra Syndrome with Severe Sensory Neural Deafness and <em>De Novo</em> Novel Mutation
- Klippel-Feil syndrome and Dandy-Walker malformation
- Late-onset hearing loss case associated with a heterozygous truncating variant of DIAPH1
- Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations
- MED13 mutation: A novel cause of developmental and epileptic encephalopathy with infantile spasms
- Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers
- Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome
- Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q
- Molecular characterization of <em>de novo</em> ring chromosome 21 in a child with seizures, growth retardation, and multiple congenital anomalies
- Molecular mechanisms of β-cell dysfunction and death in monogenic forms of diabetes
- Mowat-Wilson syndrome: deafness in the first Egyptian case who was conceived by intracytoplasmic sperm injection
- New ocular finding in Baraitser-Winter syndrome (BWS)
- Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3
- Non-progressive leukoencephalopathy with bilateral anterior temporal cysts: a case report and review of the literature
- Novel facial characteristics in congenital rubella syndrome: a study of 115 cases in a cardiac hospital of Bangladesh
- Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures
- Novel mutation in SUCLA2 identified on sequencing analysis
- Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome
- Ocular manifestations of the Johanson-Blizzard syndrome
- PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly
- Phenotypic and microscopic description of a new case of Ermine phenotype
- Phenotypic and Molecular Heterogeneity in Mandibulofacial Dysostoses: A Case Series From India
- Prenatal diagnosis of Cockayne syndrome type A based on the identification of two novel mutations in the ERCC8 gene
- Primary Dwarfism, Microcephaly, and Chorioretinopathy due to a PLK4 Mutation in Two Siblings
- Primary hypogonadism, partial alopecia, and Mullerian hypoplasia: report of a third family and review
- Schimke XLID syndrome results from a deletion in BCAP31
- SEC31A mutation affects ER homeostasis, causing a neurological syndrome
- Secondary congenital aphakia
- Sensorineural deafness in two infants: a novel feature in the 22q distal duplication syndrome. Cardinal signs in trisomies 22 subtypes
- Spliceosomopathies and neurocristopathies: Two sides of the same coin?
- The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1
- The eleventh reported case of Mulvihill-Smith syndrome in the literature
- Two cases of DCDC2-related neonatal sclerosing cholangitis with developmental delay and literature review
- Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation
- Variants in <em>PHF8</em> cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology
- Warsaw breakage syndrome: an etiology for congenital microcephaly and sensorineural deafness
- Whole exome sequencing identifies a new mutation in the SLC19A2 gene leading to thiamine-responsive megaloblastic anemia in an Egyptian family
- Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays
- X-linked mental retardation-hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G&gt;C mutation in the ATRX gene
- X-linked mental retardation-hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G>C mutation in the ATRX gene
- Zika Virus Infection in Pregnant Women and Microcephaly