Disease: Short stature mental retardation eye anomalies
- <em>CTCF</em>-Related Disorder
- <em>PNPLA6</em> Disorders
- 15q26.3 deletions distal to IGF1R cause growth retardation, congenital heart defect and skeletal anomalies: Case report and review of literature
- 22.5 MB DELETION OF 13q31.1-q34 ASSOCIATED WITH HPE, DWM, AND HSCR: A CASE REPORT AND REDEFINING THE SMALLEST DELETED REGIONS
- A 24.2-Mb deletion of 4q12 --> q21.21 characterized by array CGH in a 131/2-year-old girl with short stature, mental retardation, developmental delay, hyperopia, exotropia, enamel defects, delayed tooth eruption and delayed puberty
- A 24.2-Mb deletion of 4q12 --> q21.21 characterized by array CGH in a 131/2-year-old girl with short stature, mental retardation, developmental delay, hyperopia, exotropia, enamel defects, delayed tooth eruption and delayed puberty
- A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q
- A Child with Kabuki Syndrome and Autism Spectrum Disorder
- A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot
- A de novo 13q31.3 microduplication encompassing the miR-17 ~ 92 cluster results in features mirroring those associated with Feingold syndrome 2
- A de novo frameshift variant of ANKRD11 (c.1366_1367dup) in a Chinese patient with KBG syndrome
- A fourth case of Feingold syndrome type 2: psychiatric presentation and management
- A nationwide survey of Schaaf-Yang syndrome in Japan
- A Novel Missense Mutation in the TGF-beta-binding Protein-Like Domain 3 of FBN1 Causes Weill-Marchesani Syndrome with Intellectual Disability
- A Novel Missense Mutation in the TGF-β-binding Protein-Like Domain 3 of <em>FBN1</em> Causes Weill-Marchesani Syndrome with Intellectual Disability
- A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family
- A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2
- A SOX3 (Xq26.3-27.3) duplication in a boy with growth hormone deficiency, ocular dyspraxia, and intellectual disability: a long-term follow-up and literature review
- A ZFHX4 mutation associated with a recognizable neuropsychological and facial phenotype
- Acrodysostosis with unusual iridal color changing with age
- Associated anomalies in cases with achondroplasia
- Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature
- Autosomal recessive Noonan-like syndrome caused by homozygosity for a previously unreported variant in SPRED2
- Bardet-Biedl syndrome
- Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly
- Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities
- Brain white matter abnormalities associated with copy number variants
- Bright ocular background with profound cutis laxa and large fontanelles
- Case Report: Identification of a novel PRR12 variant in a Chinese boy with developmental delay and short stature
- Cat Eye Syndrome with a Unique Liver and Dermatological Presentation
- Cataracts, ataxia, short stature, and mental retardation in a Chinese family mapped to Xpter-q13.1
- Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype
- Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome
- Cockayne's syndrome with unusual retinal involvement (report of one family)
- Cryptic 7q36.2q36.3 deletion causes multiple congenital eye anomalies and craniofacial dysmorphism
- De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females
- Dental management of a child with trisomy 9 mosaicism: a case report
- Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia
- DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies
- Dysmyelination of the cerebral white matter with microdeletion at 6p25
- Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion
- Exome sequencing confirms the clinical diagnosis of both joubert syndrome and klinefelter syndrome with keratoconus in a han Chinese family
- Ezh2 Mutations Found in the Weaver Overgrowth Syndrome Cause a Partial Loss of H3K27 Histone Methyltransferase Activity
- Facial capillary malformation and Dyke-Davidoff-Masson syndrome
- Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN
- Gait disturbance in a patient with de novo 1.0-kb SOX2 microdeletion
- Genetic disorders associated with postnatal microcephaly
- Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans
- Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2
- Homozygosity for a novel missense variant of <em>RPGRIP1L</em> causing Joubert syndrome with renal defects in a family of Chinese descent
- How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?
- Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies
- Kabuki make-up (Niikawa-Kuroki) syndrome with mosaicism ring chromosome X and incomplete XIST gene expression
- Kabuki make-up (Niikawa-Kuroki) syndrome: cognitive abilities and autistic features
- KBG syndrome in a cohort of Italian patients
- Kenny-Caffey syndrome and its related syndromes
- Kenny-Caffey syndrome: an Arab variant?
- Keratosis pilaris and ulerythema ophryogenes in a woman with monosomy of the short arm of chromosome 18
- Lacrimal drainage anomalies in Rubinstein-Taybi syndrome: case report and review of literature
- LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters
- Long-term follow-up of females with unbalanced X;Y translocations-reproductive and nonreproductive consequences
- Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype
- Mental retardation, short stature and synpolydactyly in a manifesting heterozygote of Bartsocas-Papas syndrome
- MICRO syndrome: an entity distinct from COFS syndrome
- Microphthalmos-anophthalmos-coloboma (MAC) spectrum in two brothers with Renpenning syndrome due to a truncating mutation in the polyglutamine tract binding protein 1 (<em>PQBP1</em>) gene
- Molecular cytogenetic investigation of two patients with Y chromosome rearrangements and intellectual disability
- Multiple periorbital dermoid cysts, clefting and mental retardation: a new malformation syndrome?
- Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects
- Neural correlates of altered response inhibition and dysfunctional connectivity at rest in obsessive-compulsive disorder
- Neurobehavioral Alterations in a Genetic Murine Model of Feingold Syndrome 2
- New ocular finding in Baraitser-Winter syndrome (BWS)
- Novel B3GALTL mutation in Peters-plus Syndrome
- Novel compound heterozygous mutations in <em>TELO2</em> in a patient with severe expression of You-Hoover-Fong syndrome
- Ocular manifestations of Seckel syndrome
- Oculo-palato-cerebral syndrome: a third case supporting autosomal recessive inheritance
- Oliver-McFarlane syndrome in a chinese boy: retinitis pigmentosa, trichomegaly, hair anomalies and mental retardation
- Peters Anomaly
- Peters Anomaly
- Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase
- Peters'-plus syndrome is a congenital disorder of glycosylation caused by a defect in the beta1,3-glucosyltransferase that modifies thrombospondin type 1 repeats
- Prenatal and postnatal presentation of PRMT7 related syndrome: Expanding the phenotypic manifestations
- Primary Dwarfism, Microcephaly, and Chorioretinopathy due to a PLK4 Mutation in Two Siblings
- Progeroid syndrome of De Barsy - a case report and review of ophthalmic literature
- Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome)
- Renpenning syndrome in a female
- Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4
- Retinal involvement in two unrelated patients with Myhre syndrome
- Ring chromosome 6 in three fetuses: case reports, literature review, and implications for prenatal diagnosis
- Rud syndrome
- Schaaf-Yang Syndrome
- Seckel syndrome and spontaneously dislocated lenses
- Septo-optic dysplasia plus: a case report
- Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS
- Short stature, sensorineural deafness, ocular abnormalities and severe mental retardation in two siblings. A new syndrome?
- Single Large-Scale Mitochondrial DNA Deletion Syndromes
- Spectrum of dolichospondylic dysplasia: two new patients with distinctive findings
- Subtle familial translocation t(11;22)(q24.2;q13.33) resulting in Jacobsen syndrome and distal trisomy 22q13.3: further details of genotype-phenotype maps
- The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene
- The nosology of Richieri-Costa/Guion-Almeida syndrome(s)
- Two cases of 16q12.1q21 deletions and refinement of the critical region