sox2 anophthalmia syndrome life expectancy

Kelberman D, de Castro SC, Huang S, Crolla JA, Palmer R, Gregory JW, Taylor D, Cavallo L, Faienza MF, Fischetto R, Achermann JC, Martinez-Barbera JP, Rizzoti K, Lovell-Badge R, Robinson IC, Gerrelli D, Dattani MT. As the lung develops, cells become specified and differentiate into the various cell lineages. You must talk to your provider if you take isotretinoin and thalidomide. Genital abnormalities. J Clin They often arise in conjunction with other ocular defects such as coloboma and orbital cyst. What is the prognosis of a genetic condition? See Quick Reference for an explanation of nomenclature. About 10 percent to 15 percent of people with anophthalmia in both eyes have SOX2 anophthalmia syndrome. The following information represents typical management recommendations for individuals with developmental delay/ intellectual disability in the United States; standard recommendations may vary from country to country. Treatment Depending upon the severity of malformations, life expectancy can be normal but some patients have died in the neonatal period. Blackburn PR, Chacon-Camacho OF, Ortiz-Gonzlez XR, Reyes M, Lopez-Uriarte GA, Zarei S, Bhoj EJ, Perez-Solorzano S, Vaubel RA, Murphree MI, Nava J, Cortes-Gonzalez V, Parisi JE, Villanueva-Mendoza C, Tirado-Torres IG, Li D, Klee EW, Pichurin PN, Zenteno JC. hypogonadism. SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother. To establish the extent of disease and needs in an individual diagnosed with SOX2 disorder, the evaluations summarized in Table 4 (if not performed as part of the evaluation that led to diagnosis) are recommended. sox2 anophthalmia syndrome life expectancy. Its a question of managing these conditions and any other conditions that might occur with them. A 504 plan (Section 504: a US federal statute that prohibits discrimination based on disability) can be considered for those who require accommodations or modifications such as front-of-class seating, assistive technology devices, classroom scribes, extra time between classes, modified assignments, and enlarged text. Glasses or contacts. In two of these, FISH studies identified sub-microscopic deletions involving a minimum of 328 Kb and 550 Kb. An oculoplastic surgeon is a surgeon who has special training with the eyes, the eye sockets and the bones that make them up. Incl motor, adaptive, cognitive, & speech/language eval, Eval for early intervention/ special education, Mobility, ADL, & need for adaptive devices, Need for ongoing PT (to improve gross motor skills) &/or OT (to improve fine motor skills). The lung originates from the ventral foregut and develops into an intricate branched structure of airways, alveoli, vessels and support tissue. Babies with SOX2 anophthalmia syndrome may have seizures, brains problems, slow growth, developmental delays and learning disabilities. BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. . Dystonia may worsen & can show acute change to status dystonicus, which should be considered a medical emergency. Intrafamilial clinical variability is observed in, If the genetic alteration identified in the proband cannot be detected in the leukocyte DNA of either parent, the recurrence risk to sibs is greater than that of the general population because of the possibility of parental germline mosaicism. SOX2 encodes the transcription factor SOX2 (317 amino acids) which has an HMG DNA-binding domain (amino acids 40-111), a partner-binding region, and a C-terminal transactivation region. Dennert N, Engels H, Cremer K, Becker J, Wohlleber E, Albrecht B, Ehret JK, Ldecke HJ, Suri M, Carignani G, Renieri A, Kukuk GM, Wieland T, Andrieux J, Strom TM, Wieczorek D, Dieux-Coslier A, Zink AM. Anophthalmos-. See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes. MRC Institute of Genetics and Molecular Medicine SOX2 anophthalmia syndrome. support organizations and/or registries for the benefit of individuals with this disorder In two of these, FISH studies identified sub-microscopic deletions involving a minimum of 328 Kb and 550 Kb. (https://www.cdc.gov/ncbddd/birthdefects/anophthalmia-microphthalmia.html#:~:text=Microphthalmia%20is%20a%20birth%20defect,fully%2C%20so%20they%20are%20small. The diagnosis can be made based on observation. usta tennis court construction specifications / why is rebecca lowe hosting olympics / sox2 anophthalmia syndrome life expectancy. Anophthalmia/Microphthalmia (A/M) may affect one eye with the other eye being normal, or both eyes, resulting in blindness. MRC Human Genetics Unit 1. Takagi M, Narumi S, Asakura Y, Muroya K, Hasegawa Y, Adachi M, Hasegawa T. A novel mutation in SOX2 causes hypogonadotropic hypogonadism with mild ocular malformation. MRC Institute of Genetics and Molecular Medicine SOX2 anophthalmia syndrome is a rare disorder characterized by abnormal development of the eyes and other parts of the body. [updated 2020 Jul 30]. . i told him i miss him and he said aww; la porosidad es una propiedad extensiva o intensiva Frequency refers to the number of times the term was used in all included case reports. Mutations in the SOX2 gene cause SOX2 syndrome and is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is . Coming to a Cleveland Clinic location?Hillcrest Cancer Center check-in changesCole Eye entrance closingVisitation, mask requirements and COVID-19 information, Notice of Intelligent Business Solutions data eventLearn more, Microphthalmia and anophthalmia are both congenital conditions that affect the eyes. Surveillance: Routine follow up with specialists managing the vision, educational, endocrine, and neurologic manifestations. Unilateral microphthalmia is the term for when the condition affects only one eye. Vision and hearing consultants should be a part of the child's IEP team to support access to academic material. For information on nonmedical interventions and coping strategies for children diagnosed with epilepsy, see Epilepsy Foundation Toolbox. National Library of Medicine. Edinburgh, United Kingdom, Consultant in Pediatric Genetics, MRC Human Genetics Unit Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma. Ophthalmol. PT, OT, and speech services will be provided in the IEP to the extent that the need affects the child's access to academic material. Zenteno JC, Gascon-Guzman G, Tovilla-Canales JL. Expand All. Individuals with SOX2 anophthalmia syndrome may also have seizures, brain abnormalities, slow growth, delayed development of motor skills (such as walking), and mild to severe learning disabilities. Each child of a female proband with a constitutional. recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two Inheritance was observed as de novo constitutive or de novo mosaic events, or, less frequently, from parents with constitutional duplications (see DECIPHER). It is so rare it occurs in one in 250,000 people. [3] Microphthalmia-associated transcription factor (MITF), located on chromosome 14q32, is associated with one form of isolated microphthalmia (MCOP1). Developmental Disabilities Administration (DDA) enrollment is recommended. Reis LM, Tyler RC, Schilter KF, Abdul-Rahman O, Innis JW, Kozel BA, Schneider AS, Bardakjian TM, Lose EJ, Martin DM, Broeckel U, Semina EV. Bean LJH, Gripp KW, Amemiya A, editors. Sox2 anophthalmia syndrome is an autosomal dominant inheritance. See a healthcare provider before you get pregnant and work together so you can be as healthy as possible before and during your pregnancy. American Academy of Ophthalmology. Intellectual ability is highly variable, ranging from normal to profound learning disability, with the majority having moderate learning disability. Disclaimer, Developmental Delay/ Intellectual Disability Management Issues. Tziaferi V, Kelberman D, Dattani MT. Prevalence is approximately 1:250,000 (UK estimate) [Author, personal data], extrapolated from Shah et al [2011], with no population differences noted. "In simple terms these Chromosomes are snapped, swapped and a piece has gone missing," Sarah explains. noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright ( 1993-2023 University of [ Read summary ] Many factors can affect how long a person with Down syndrome lives. Multiple pages were reviewed for this article. Epub 2006 Mar 16. Youll need bigger devices as your face grows. The incidence of parental germline mosaicism in. The eyes are often absent or severely underdeveloped (anophthalmia), or they may be abnormally small (microphthalmia). When anophthalmia or microphthalmia is the only condition a baby has, it's called nonsyndromic or isolated. Gene-targeted testing requires that the clinician determine which gene(s) are likely involved, whereas comprehensive genomic testing does not. Spasticity, including diplegia, paraparesis, or quadriparesis was reported in 13 individuals. Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring. Genetic Testing Registry: Anophthalmia/microphthalmia-esophageal atresia syndrome, National Organization for Rare Disorders (NORD). Differences in perspective may exist among medical professionals and within families regarding the use of prenatal testing. Chromosomal microarray analysis (CMA) uses oligonucleotide or SNP arrays to detect genome-wide large deletions/duplications (including SOX2) that cannot be detected by sequence analysis. Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. professional. When the phenotypic findings suggest the diagnosis of SOX2 disorder, molecular genetic testing approaches can include single-gene testing or use of a multigene panel: Comprehensive New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies. status for family members; it is not meant to address all personal, cultural, or Researchers think that the changes in genes and chromosomes may combine with environmental factors to result in conditions present at birth. Gene-targeted deletion/duplication testing will detect deletions ranging from a single exon to a whole gene; however, breakpoints of large deletions and/or deletion of adjacent genes (e.g., those described by Suzuki et al [2014]) may not be detected by these methods [Chassaing et al 2014]. Being exposed to chemicals, like drugs or pesticides, during pregnancy. Affected families are of Middle Eastern ethnicity. Here we provide a detailed description of the clinical features associated with SOX2 mutations in the five individuals with reported mutations and four newly identified cases (including the first reported SOX2 missense mutation). Bilateral anophthalmia and/or microphthalmia. Sox2 Anophthalmia Syndrome Sox2-Related Eye Disorders Syndromic Microphthalmia 3 Registry Number 0 Heading Mapped to *Esophageal Atresia *Microphthalmos *Nervous System Malformations Frequency 7 Note PROM mutation in SOX2 Date of Entry 2012/11/05 Revision Date 2013/10/24. silobration vendor application 2022dream about someone faking their death Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. This gene provides instructions for making a protein that plays a critical role in the formation of many different tissues and organs during embryonic development. sox2 anophthalmia syndrome life expectancy. SOX2 anophthalmia syndrome Also known as: AEG syndrome, Anophthalmia-esophageal-genital syndrome, SOX2-related eye disorders, syndromic microphthalmia 3 About Description and symptoms Communities Support groups for Sox2 Anophthalmia Syndrome Providers Healthcare providers in the area Research The risk to the sibs of the proband depends on the genetic status of the proband's parents: Other family members. Almost all SOX2 pathogenic variants reported to date appear to represent heterozygous loss of function; thus, it is difficult to draw genotype-phenotype correlations. B r J Ophthalmol 2007; 91: 1471 . Families with limited income and resources may also qualify for supplemental security income (SSI) for their child with a disability. How can gene variants affect health and development? ED. of GeneReviews chapters for use in lab reports and clinic notes are a permitted Reported heterozygous deletions of 3q26.33 involving SOX2 (~2%-3% of affected individuals, increasing to ~20% of affected individuals with bilateral anophthalmia/severe microphthalmia) [Williamson & FitzPatrick 2014; Author, unpublished data] include: Initial Posting: February 23, 2006; Last Update: July 30, 2020. Microphthalmia and anophthalmia may happen along with other medical conditions that occur at birth, including issues with hands and feet malformation (like polydactyly), face and mouth malformation (like cleft lip and palate) and intellectual challenges. Sox2 is involved in crystallin regulation in murine [ 22] and avian models [ 23] and humans, and SOX2 mutations cause microphthalmia and cataracts [ 24, 25 ]. Ophthalmo-acromelic syndrome is a condition that results in malformations of the eyes, hands, and feet. In the US, early intervention is a federally funded program available in all states that provides in-home services to target individual therapy needs. What are the different ways a genetic condition can be inherited? GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen.hgvs.org). Fielder A, Ainsworth J, Moore A, Read S, Uddin J, Laws D, Pascuel-Salcedo D, The absence of the eye will cause a small bony orbit, a constricted mucosal socket, short eyelids, reduced palpebral fissure SOX2 is expressed in mouse embryonic stem cells and has been shown to act as part of a transcriptional activator complex for several important developmental genes including other genes known to be critical to eye development (e.g., PAX6 and MAF1). Kelberman D, de Castro SC, Huang S, Crolla JA, Palmer R, Gregory JW, Taylor D, SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development. Education of parents/caregivers regarding common seizure presentations is appropriate. The ability to determine the size of the deletion/duplication depends on the type of microarray used and the density of probes in the 3q26.33 region. OMIM Entries for SOX2 Disorder (View All in OMIM). Dis. Consultation with a developmental pediatrician may be helpful in guiding parents through appropriate behavior management strategies or providing prescription medications, such as medication used to treat attention-deficit/hyperactivity disorder, when necessary. Ages 3-5 years. Epub 2007 May c/o Center for Developmental Medicine and Genetics, A cytogenetically visible deletion of 3q26.33 that either encompasses, Professor Veronica van Heyningen for continued helpful collaboration, MACS family support organization for their interest and support, 30 July 2020 (bp) Comprehensive update posted live, 31 July 2014 (me) Comprehensive update posted live, 25 August 2009 (me) Comprehensive update posted live, 7 March 2008 (cd) Revision: FISH analysis available clinically, 5 December 2007 (cd) Revision: deletion/duplication analysis available clinically. Policy. Services to help a child and their family deal with vision loss or blindness. Recommended Surveillance for Individuals with SOX2 Disorder. Br J organizations. Anophthalmia is when a baby is born without one or both of their eyes. Once the causative genetic alteration has been identified in an affected family member (or a parent is known to have a structural chromosome rearrangement involving the 3q26.33 region), prenatal testing for a pregnancy at increased risk is possible and preimplantation genetic testing for SOX2 disorder may be possible, depending on the specific familial variant. AAC devices can range from low-tech, such as picture exchange communication, to high-tech, such as voice-generating devices. . Data are compiled from the following standard references: gene from Mesial temporal heterotopia is highly assoc w/future epilepsy. As a child enters the teen years, a transition plan should be discussed and incorporated in the IEP. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, the diversifying clinical signs. Of the three, coloboma is the most common condition in the MAC spectrum, affecting 1 in 5000 newborns. Pilz RA, Korenke GC, Steeb R, Strom TM, Felbor U, Rath M. Exome sequencing identifies a recurrent SOX2 deletion in a patient with gait ataxia and dystonia lacking major ocular malformations. sox2 anophthalmia syndrome life expectancy Isgho Votre ducation notre priorit The ontology structure describes the relationship of terms to each other [Khler et al 2019]. Malformation and/or gray matter heterotopia of the mesial temporal structures (hippocampal and parahippocampal), pituitary hypoplasia, and agenesis or dysgenesis of the corpus callosum are core features of SOX2 disorder. driver refresher course for seniors; vawa cases approved 2022 immihelp; HPO terms that appear fewer than four times were excluded. Beyond that, private supportive therapies based on the affected individual's needs may be considered. The Human Phenotype Ontology (HPO) enables use of precise, standardized, computationally accessible terms to describe phenotypic abnormalities. Feb 19. One of these individuals, who also had a dystonic movement disorder and unilateral strabismus as the only eye defect, had a 1.6- to 2-megabase (Mb) deletion encompassing SOX2 [Dennert et al 2017]. The degree of visual impairment is usually severe and consistent with the degree of structural abnormality in the eye. Always go to your appointments, even if you feel fine. Sharkey FH, McGill N, Hill CJ, Schneider A, Messina M, Turnpenny PD, Fantes JA, Br J Ophthalmol. SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies. A/M is rare, but the exact incidence is unknown. Gerth-Kahlert et al [2013], Chassaing et al [2014], Suzuki et al [2014], Mauri et al [2015], Zanolli et al [2020]. This may be an inappropriate acronym, as it implies that coloboma is an intrinsic part of all microphthalmia, which is not the case: coloboma has been reported but is not a common feature. Deml B, Reis LM, Lemyre E, Clark RD, Kariminejad A, Semina EV. In general, retina tissue that is present has some functional activity. University of Edinburgh Talking to your healthcare team may help you to develop strategies to have in place to help you manage these conditions. hereby granted to reproduce, distribute, and translate copies of content materials for Identification of novel mutations and sequence variants in Anophthalmia means that one or both eyes dont develop at all so they are missing. Williamson KA, Yates TM, FitzPatrick DR. SOX2 Disorder. 2007 Nov . Correcting refractive error is necessary to treat any sign of. Prosthetic eyes: Prosthetic eyes are placed in empty eye sockets. For more information, see the GeneReviews Copyright Notice and Usage The life expectancy of people with Down syndrome increased dramatically between 1960 and 2007. NAA10 polyadenylation signal variants cause syndromic microphthalmia. An ophthalmologist is a medical doctor who is trained in diagnosing and treating eye conditions and vision conditions. SOX2 anophthalmia syndrome: 12 new cases Surgery: You might need surgery to treat cataracts, coloboma or to help with the conformer fittings. Mauri L, Franzoni A, Scarcello M, Sala S, Garavelli L, Modugno A, Grammatico P, Patrosso MC, Piozzi E, Del Longo A, Gesu GP, Manfredini E, Primignani P, Damante G, Penco S. SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia. People with SOX2 anophthalmia syndrome are usually born without eyeballs (anophthalmia), although some individuals have small eyes ( microphthalmia ). However, its also possible to diagnose these conditions during pregnancy. Assess for sensorineural & conductive hearing loss. Fetal MRI. The information on this site should not be used as a substitute for professional medical care or advice. The ZR13 OBD2 Code Reader by Zurich is the ultimate in code readers. People with SOX2 anophthalmia syndrome are usually born without eyeballs (anophthalmia), although some individuals have small eyes (microphthalmia). They can also do the fitting for these devices. See Genetic Counseling. There are many ways to receive support: Seven children had apparently nonprogressive moderate sensorineural hearing loss requiring hearing aids. If a parent has a balanced structural chromosome rearrangement involving the 3q26.33 region, the risk to sibs is increased. Note: There may not be clinical trials for this disorder. Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia. Taking medications that include isotretinoin (Accutane) or thalidomide during a pregnancy. Pavone P, Cho SY, Pratic AD, Falsaperla R, Ruggieri M, Jin DK. Sensorineural hearing loss. The term "SOX2 disorder" is used in this GeneReview to refer to the complete phenotypic spectrum associated with heterozygous SOX2 pathogenic variants. Approximately 60% of affected individuals have a de novo genetic alteration. Sisodiya SM, Ragge NK, Cavalleri GL, Hever A, Lorenz B, Schneider A, Williamson KA, Stevens JM, Free SL, Thompson PJ, van Heyningen V, Fitzpatrick DR. Role of SOX2 mutations in human hippocampal malformations and epilepsy. Hearing device can be helpful but no treatment is available for the eyeball malformations. Developmental preschool is center based; for children too medically unstable to attend, home-based services are provided. SOX2 disorder comprises a phenotypic spectrum that can include anophthalmia and/or microphthalmia, brain malformations, developmental delay / intellectual disability, esophageal atresia, hypogonadotropic hypogonadism (manifest as cryptorchidism and micropenis in males, gonadal dysgenesis infrequently in females, and delayed puberty in both Anophthalmia-esophageal atresia-genital abnormalities (AEG) syndrome was previously reported to be a distinct disorder, but is now known to be associated in some individuals with heterozygous pathogenic loss-of-function variants in SOX2 [Williamson et al 2006, Zenteno et al 2006]; thus, it appears that esophageal atresia with or without tracheoesophageal fistula is a feature of SOX2 disorder and not a separate condition. For a review article see Julian et al [2017]. A short animation explaining MAC. Schneider A, Bardakjian TM, Zhou J, Hughes N, Keep R, Dorsainville D, Kherani F, Katowitz J, Schimmenti LA, Hummel M, Fitzpatrick DR, Young TL. The term anophthalmia is often used interchangeably with severe microphthalmia because individuals with no visible eyeballs typically have some remaining eye tissue. The optimal time for determination of genetic risk and discussion of the availability of prenatal/preimplantation genetic testing is before pregnancy. ethical issues that may arise or to substitute for consultation with a genetics Note: The severity of disease and specific clinical findings vary and cannot be accurately predicted by the family history or results of molecular genetic testing. Am J Med Genet A. Its important to have a healthcare team if you or your child has microphthalmia or anophthalmia. An IEP provides specially designed instruction and related services to children who qualify. a rare congenital abnormality characterized by the complete absence of ocular tissue in the orbit. Individuals with SOX2 anophthalmia syndrome may also have seizures, brain abnormalities, slow growth, delayed development of motor skills (such as walking), and mild to severe learning disabilities. Advertising on our site helps support our mission. SOX2 anophthalmia syndrome is a rare disorder characterized by abnormal development of the eyes and other parts of the body. Disclaimer. Causes: SOX2: The most genetic based cause for anophthalmia is caused by the SOX2 gene. Seizures were observed in 22 individuals. Last reviewed by a Cleveland Clinic medical professional on 09/07/2022. Erratum In: Hum Mol Some affected individuals have inherited the genetic alteration from either an affected mother (transmission from an affected father to child has not been reported to date) or an unaffected parent with germline mosaicism. Children and adults who have a rare disease and their caregivers are encouraged to talk about their needs with the medical team and to reach out for the support they require. SOX2 (OMIM 184429) belongs to the SOX family of transcription factors that contain a 79-amino acid high mobility group (HMG) box DNA-binding domain similar to that found in the sex-determining gene SRY (OMIM 480000) (1, 2). Faivre L, Williamson KA, Faber V, Laurent N, Grimaldi M, Thauvin-Robinet C, Durand C, Mugneret F, Gouyon JB, Bron A, Huet F, Hayward C. Heyningen Vv, Fitzpatrick DR. Ptosis in childhood: A clinical sign of several disorders: Case series reports and literature review. [Google Scholar] 10. Here we provide a detailed description of the clinical features associated with SOX2 mutations in the five individuals with reported mutations and four newly identified cases (including the first reported SOX2 missense mutation). Familial This condition is caused by an extra X chromosome in each of a female's cells. U.S. Department of Health and Human Services. Contrary to popular belief, AAC devices do not hinder verbal development of speech, but rather support optimal speech and language development. ABA therapy is targeted to the individual child's behavioral, social, and adaptive strengths and weaknesses and typically performed one on one with a board-certified behavior analyst. There are early intervention services to help your child learn and support groups to help your family and your child succeed. Sporadic and familial congenital cataracts: mutational spectrum and new diagnoses using next-generation sequencing. Frequently cryptorchidism and/or micropenis in males (commonly a manifestation of hypogonadotropic hypogonadism); infrequently uterus hypoplasia and ovary or vaginal agenesis in females, Tracheoesophageal fistula and/or esophageal atresia, Delayed motor development/ learning disability, Spasticity, dystonia, or status dystonicus, For an introduction to multigene panels click, Unilateral anophthalmia or microphthalmia and a normal eye, Unilateral anophthalmia with cataract in the contralateral eye, Unilateral microphthalmia with coloboma or iris defect in the contralateral eye, Bilateral or unilateral congenital aphakia, Anterior segment dysgenesis (including sclerocornea or microcornea), A monozygotic twin with tracheoesophageal fistula and unilateral reduced palpebral fissure whose twin had unilateral anophthalmia as part of anophthalmia-esophageal atresia-genital abnormalities (AEG) syndrome [, A sibling fetus in a family with AEG syndrome, with brain anomalies and 11 rib pairs [, A woman with intellectual disability, corpus callosum agenesis, hypogonadotropic hypogonadism, vaginal agenesis, and spastic paraparesis [, A mother (with either heterozygosity or a high level of mosaicism of the, Two individuals identified in an intellectual disability cohort with mild microcornea, delayed speech and walking, esophageal stenosis, hearing deficits and mild facial hypoplasia in one; and strabismus, delayed speech, dystonic movements and spastic diplegia, hypogonadotropic hypogonadism, and corpus callosum and hippocampus malformation in the other individual [, Three individuals with mild ocular defects (esotropia, macro excavated optic disc, or thin retinal layer) and a combination of developmental delay, seizures, hypotonia or dystonia, tracheoesophageal fistula, suprasellar teratoma, and gonadal dysgenesis [.

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