Research By Disease – CheckOrphan

Disease: Microphthalmia and mental deficiency

CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects
CTDP1-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy
PAX6-Related Aniridia
RERE-Related Disorders
SOX2 Disorder
14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly
14q22.3 Microdeletion encompassing OTX2 in a five-generation family with microphthalmia, pituitary abnormalities, and intellectual disability
3D facial morphometry in Italian patients affected by Aicardi syndrome
8q21.11 microdeletion in two patients with syndromic peters anomaly
A case of severe mental and developmental retardation associated with 14q terminal monosomy/5q terminal trisomy
A complex phenotype in a family with a pathogenic SOX3 missense variant
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants
A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia
A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome
A novel contiguous deletion involving NDP, MAOB and EFHC2 gene in a patient with familial Norrie disease: bilateral blindness and leucocoria without other deficits
A novel mutation in RAB3GAP1 gene in Chinese patient causing the Warburg micro syndrome: A case report
A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation
A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome
A TRISOMY 13 CASE PRESENTING WITH CONGENITAL DIAPHRAGMATIC HERNIA AND MICROPHTHALMIA
A Very Rare Partial Trisomy Syndrome: De Novo Duplication of 16q12.1q23.3 in a Turkish Girl with Developmental Delay and Facial Dysmorphic Features
Allan-Herndon-Dudley syndrome with unusual profound sensorineural hearing loss
An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity
An unusual presentation of Kabuki syndrome: clinical overlap with CHARGE syndrome
Anterior segment dysgenesis associated with Williams-Beuren syndrome: a case report and review of the literature
ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome
Associated malformations among infants with anophthalmia and microphthalmia
Baraitser-Winter Cerebrofrontofacial Syndrome
Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay
Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature
Bosma arhinia microphthalmia syndrome: Clinical report and review of the literature
Children with blindness - major causes, developmental outcomes and implications for habilitation and educational support: a two-decade, Swedish population-based study
Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability
Clinical characteristics and ophthalmic management of a rare disease cohort of patients with trisomy 13
Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil
Coloboma Accompanying Microphthalmos With Orbital Cyst in a Mother and Child
Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia
Congenital microcephaly-linked CDK5RAP2 affects eye development
De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations
De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing
Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome
Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature
Duplicated distal phalanx of thumb or hallux in trisomy 13: A recurrent feature in a series of 42 fetuses
ENU mutagenesis identifies mice modeling Warburg Micro Syndrome with sensory axon degeneration caused by a deletion in Rab18
Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome
Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma
Facial capillary malformation and Dyke-Davidoff-Masson syndrome
Fetal diagnosis of Mowat-Wilson syndrome by whole exome sequencing
First Clinical Report of Two RAB3GAP1 Pathogenic Variant in Warburg Micro Syndrome
First Report of Mexican Patients with PACS1-Related Neurodevelopmental Disorder and Review of the PACS1-, PACS2-, and WDR37-Related Ophthalmological Manifestations
Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities
Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment
Gait disturbance in a patient with de novo 1.0-kb SOX2 microdeletion
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities
Hedgehog acyl-transferase-related multiple congenital anomalies: Report of an additional family and delineation of the syndrome
Identification of a novel microdeletion causative of Nance-Horan syndrome
Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing
Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia
Kaufman Oculocerebrofacial Syndrome
Lenz Microphthalmia Syndrome – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
Lenz microphthalmia syndrome in neurosurgical practice: a case report and review of the literature
Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights
Microphthalmos-anophthalmos-coloboma (MAC) spectrum in two brothers with Renpenning syndrome due to a truncating mutation in the polyglutamine tract binding protein 1 (PQBP1) gene
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations
Mosaic proximal trisomy 13q and regular trisomy 13 in a female patient with long survival: Involvement of an incomplete trisomic rescue and a chromothripsis event
Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects
Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy
NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment
Nance-Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature
Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new families
Neurological findings in incontinentia pigmenti; a review
New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review
New ocular findings in a patient with a novel pathogenic variant in the FBXO11 gene
New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish
Novel RAB3GAP1 Mutation in the First Tunisian Family With Warburg Micro Syndrome
Novel BCOR mutation in a boy with Lenz microphthalmia/oculo-facio-cardio-dental (OFCD) syndrome
Ocular manifestations in the X-linked intellectual disability syndromes
Oculo-dento-digital dysplasia: lack of genotype-phenotype correlation for GJA1 mutations and usefulness of neuro-imaging
Ophthalmologic abnormalities in Mowat-Wilson syndrome and a mutation in ZEB2
Persistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15
Phenotypic variability in Patau syndrome
RAB18 Deficiency
Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome)
RECURRENT RAB3GAP1 MUTATIONS IN THE TURKISH POPULATION
Requirement of the Mowat-Wilson Syndrome Gene Zeb2 in the Differentiation and Maintenance of Non-photoreceptor Cell Types During Retinal Development
Retinitis pigmentosa and nanophthalmos in a patient with attenuated Hunter's syndrome
Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study
Rubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literature
Secondary congenital aphakia
Sequence variations in TENM3 gene causing eye anomalies with intellectual disability: Expanding the phenotypic spectrum
Sex-linked Microphthalmia and Mental Deficiency
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type
Smith-Magenis syndrome in Puerto Rico: a case report
SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant
Warburg Micro syndrome
Warburg micro syndrome in two children from a highly inbred Turkish family
Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy