None of the variants presented in this study are reported in the gnomAD, Iranome, GME, or TogoVar databases. [nature.com]

Other anomalies presented in some patients with Martsolf syndrome include short stature, "old looking" face, mottled retina, minor digital abnormalities, microcephaly, narrow hands and feet, hypertelorism, cardiomyopathy, and cardiac failure. [cags.org.ae]

Genotype-phenotype correlations for these genes have now established that the clinical phenotype in Micro and Martsolf syndromes represent a phenotypic continuum related to the nature and severity of the mutations present in the disease genes with more [research.ed.ac.uk]

Case presentation: We describe four siblings from healthy consanguineous Turkish parents with developmental delay, congenital cataract, and speech delay. In this study, we performed whole exom sequencing (WES) in a index patient. [tandfonline.com]

(July 2022) Genetics[edit] Warburg Micro is autosomal recessive, which means two copies of an abnormal gene must be present for the disorder to appear. [en.wikipedia.org]

• Short Stature

  J Med Genet 9:193–196 Google Scholar Mollica F, Pavone L, Antener I (1972) Short stature, mental retardation, and ocular alterations in three siblings. [link.springer.com]

  Abstract Martsolf syndrome is an autosomal recessive syndrome characterized by microcephaly, mental retardation, cataract, hypogonadism and short stature. [pubmed.ncbi.nlm.nih.gov]

  Other anomalies presented in some patients with Martsolf syndrome include short stature, "old looking" face, mottled retina, minor digital abnormalities, microcephaly, narrow hands and feet, hypertelorism, cardiomyopathy, and cardiac failure. [cags.org.ae]

  They had short stature, severe mental retardation, cataract, hypogonadism, craniofacial dysmorphism, and bone and joint symptoms… Two brothers with Martsolf's syndrome. J. M. SánchezC. BarreiroH. [semanticscholar.org]

  Free Abstract Two brothers affected by a syndrome consisting of short stature, hypogonadism, and severe mental retardation are reported. [jmg.bmj.com]

• Disability

  Dystrophy Type 2m, Congenital Muscular Dystrophy Without Intellectual Disability, Muscle- Eye-Brain Disease, Walker-Warburg Syndrome AR 98 54 of 56 FLI1 Platelet-Type Bleeding Disorder, Jacobsen Syndrome, Paris-Trousseau Thrombocytopenia, Peripheral [igenomix.es]

  Summary Martsolf Syndrome, also known as cataract-intellectual disability-hypogonadism syndrome,is related to warburg micro syndrome 1 and thyroiditis,and has symptoms including furrowed tongue, everted lower lip vermilion and microcephaly. [selfdecode.com]

  About Library Blog FAQ Testimonials Rare Charities Press Contact Search the Library Other Names: Cataract-intellectual disability-hypogonadism syndrome See more Don’t fight Martsolf syndrome alone. Find your community on the free RareGuru App. [rareguru.com]

  Synonyms cataract-intellectual disability-hypogonadism syndrome View DO Annotations for yeast and other model organisms at the Alliance of Genome Resources Ontology Diagram Reset Click on a Disease Ontology term to go to its specific page within SGD; [yeastgenome.org]

  Warburg Micro syndrome Other names Hereditary Spastic Paraplegia 69, RAB18 Associated Hereditary Spastic Paraplegia, SPG69,[1] RAB 18 Deficiency [2] Symptoms congenital cataract, progressive spasticity, intellectual or developmental disability, weak core [en.wikipedia.org]

• Developmental Disorder

  Warburg Micro syndrome and Martsolf syndrome are heterogenous autosomal-recessive developmental disorders characterized by brain, eye, and endocrine abnormalities. [research.ed.ac.uk]

  GENE OMIM DISEASES INHERITANCE* % GENE COVERAGE (20X) HGMD** ACTB Baraitser-Winter Syndrome, Juvenile-Onset Dystonia, Developmental Malformations- Deafness-Dystonia Syndrome AD 100 40 of 40 ACTG1 Baraitser-Winter Syndrome AD 98.59 55 of 55 ADAMTS3 Hennekam [igenomix.es]

• Failure to Thrive

  Failure to thrive was present during his development course, which did not respond to interventions (Figs. 1C, 3). Fig. 3: The gross anatomical features of the proband of family 2. [nature.com]

• Heart Failure

  Clinical description Besides the three main features of the syndrome, other anomalies have been reported in some of the affected patients including short stature, minor digital abnormalities, microcephaly, cardiomyopathy, heart failure, and mild facial [rareguru.com]

• Small Eyes

  […] head, small eyes, optic atrophy, and hypogenitalism [3] Usual onset cataracts appear at birth, delayed milestones evident by 4-6 months [3] Diagnostic method symptom based, genetic testing [3] Treatment Supportive care[3] Frequency 144 cases reported [en.wikipedia.org]

  Individuals with this condition have several eye problems from birth, including clouding of the lenses of the eyes (cataracts), abnormally small eyes (microphthalmia), and small corneas (microcornea). [encyclopedia.pub]

  Children with Warburg Micro syndrome have problems with vision and their eyes. This includes abnormally small eyes (microphthalmia) and abnormally small corneas. The corneas are the clear (transparent) outer layer of the eyes. [rarediseases.org]

  The main symptoms include vision and eye abnormalities including small eyes and small corneas. In some affected infants, cataracts (a clouding of the cornea) is often present at birth. [fdna.health]

• Encephalopathy

  Syndrome, Generalized Epilepsy With Febrile Seizures- Plus, West Syndrome AD 100 351 of 351 SIK1 Early Infantile Epileptic Encephalopathy, Early Myoclonic Encephalopathy, West Syndrome AD 99.67 9 of 9 SLC25A19 Microcephaly, Thiamine Metabolism Dysfunction [igenomix.es]

  early infantile, 8 300607 ARSA 22q13.33 Metachromatic leukodystrophy 250100 ARSB 5q14.1 Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200 ARSE Xp22.33 Chondrodysplasia punctata, X-linked recessive 302950 ARX Xp21.3 Epileptic encephalopathy, early [institutobernabeu.com]

  Arch Ophthalmol 63:246–253 Google Scholar Crome L, Duchett S, Franklin AW (1963) Congenital cataracts, renal tubular necrosis and encephalopathy in two sisters. [link.springer.com]

  Severe ITPase-deficiency has been previously reported with infantile epileptic encephalopathy (MIM 616647). ITPase acts to prevent incorporation of inosine bases (rI/dI) into RNA and DNA. [x-mol.com]

Clinical Testing and Workup A thorough eye (ophthalmological) examination is necessary in infants suspected of Warburg Micro syndrome. Such an exam can reveal characteristic changes in the eyes. [rarediseases.org]

Martsolf Syndrome Treatment Market Analysis and Size The global martsolf syndrome treatment market is expected to witness significant growth during the forecast period. [databridgemarketresearch.com]

[…] but it is generally associated with symptomatic treatment, as well. [en.wikipedia.org]

Treatment Treatment Options: No effective treatment is available. Vision remains subnormal even after cataracts are removed. Nutrition may be improved with placement of a gastrostomy tube. [disorders.eyes.arizona.edu]

Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

Parents should talk to their children’s physicians and medical team about their specific case, associated symptoms and overall prognosis. Children with Warburg Micro syndrome have problems with vision and their eyes. [rarediseases.org]

Symptomatic treatment is not always recommended, and in fact, it may be dangerous, because it may mask the presence of an underlying etiology which will then be forgotten or treated with great delay. [en.wikipedia.org]

Etiology Mutations in the RAB3GAP2 gene have been identified in some patients. Genetic counseling Transmission is autosomal recessive. Visit the Orphanet disease page for more resources. [rareguru.com]

Etiology Mutations in the RAB3GAP2 gene have been identified in some patients. Genetic counseling Transmission is autosomal recessive. The documents contained in this web site are presented for information purposes only. [orpha.net]

Epidemiology Less than 20 cases have been described in the literature so far. [rareguru.com]

Summary Epidemiology Less than 20 cases have been described in the literature so far. [orpha.net]

[…] to the market insights such as market value, growth rate, market segments, geographical coverage, market players, and market scenario, the market report curated by the Data Bridge Market Research team also includes in-depth expert analysis, patient epidemiology [databridgemarketresearch.com]

Eur Neuropsychopharmacol 17: 313–320 PubMed Google Scholar North CS, Smith EM, Spitznagel EL (1994) Violence and the homeless: an epidemiologic study of victimization and aggression. [link.springer.com]

ITPase acts to prevent incorporation of inosine bases (rI/dI) into RNA and DNA. [x-mol.com]

Compr Psychiatry 43: 179–181 PubMed Google Scholar Centers for Disease Control and Prevention (2006) Homicides and Suicides: National Violent Death Reporting System, United States, 2003–2004. [link.springer.com]