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115 Possible Causes for Mental Retardation, Psychomotor Regression, Round Face

  • Mucopolysaccharidosis 2

    […] resulting in large rounded cheeks and thick lips – generally manifests between ages 18 months and four years in the early progressive form and about two years later for those[ncbi.nlm.nih.gov] Progression varies from a severe form (MPS2, severe form) with early psychomotor regression to an attenuated form (MPS2, attenuated form) which manifests without cognitive[orpha.net] Diseases Nervous System Diseases Neurologic Manifestations Neurobehavioral Manifestations Mental Retardation Mental Retardation, X-Linked[hon.ch]

  • Mucopolysaccharidosis

    Progression varies from a severe form (MPS2, severe form) with early psychomotor regression to an attenuated form (MPS2, attenuated form) which manifests without cognitive[orpha.net] The above data could reflect the reduced heparan sulfate storage in her tissues and organs, and in particular in the brain, consequently explaining her moderate mental retardation[ncbi.nlm.nih.gov] Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies A syndrome[icd9data.com]

  • Mucopolysaccharidosis 1

    Most patients have shown an arrest or slowing down of psychomotor regression. However, dysostosis multiplex has progressed.[adc.bmj.com] Retardation Syndromes 463 L1454611no S1740173 Y alpha-L-iduronidase (IDA, IDUA) deficiency English(JABL) Congenital Mental Retardation Syndromes 463 L1455479no S1741179 Y[doctor.am] […] gargoylism) the most severe of the three types with coarse (gargyloid) facies, accelerated growth from infancy followed by progressive decline in the rate of development, mental[icd10data.com]

  • Congenital Muscular Dystrophy

    LAMA2 stop-codon mutation: Merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression.[pediatricneurosciences.com] CONCLUSIONS: Mutations within the FKRP gene can result in CMD associated with mental retardation and cerebellar cysts.[ncbi.nlm.nih.gov] LAMA2 stop-codon mutation: merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression.[ncbi.nlm.nih.gov]

  • Zellweger Syndrome

    face Circular face Round facial appearance Round facial shape [ more ] 0000311 Single transverse palmar crease 0000954 Subependymal cysts 0002416 Talipes equinovarus Club[rarediseases.info.nih.gov] regression.[clinicaladvisor.com] A 13-year-old girl with severe mental retardation, tapetoretinal degeneration, an extinguished electroretinogram and sensoneurinal hearing loss is described.[ncbi.nlm.nih.gov]

  • Rett Syndrome

    He showed dysmorphic features including round face, anteverted nostrils, and tented upper lips.[ncbi.nlm.nih.gov] regression, deviant communicative ability, hand stereotypes, autonomic dysfunction, and seizures.[ncbi.nlm.nih.gov] All patients had early global developmental delays followed later by severe mental retardation.[ncbi.nlm.nih.gov]

  • Psychomotor Retardation

    Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism, hypotonia, insatiable appetite leading to obesity[icd10data.com] See also Psychomotor regression Additional information about genetic tests may be available in RCPA Catalogue of Genetic Tests and Laboratories .[rcpa.edu.au] OBJECTIVE: Abnormalities in thyroid state may affect development and function of the brain and result in mental retardation (MR).[ncbi.nlm.nih.gov]

  • Early Infantile Epileptic Encephalopathy Type 6

    The results from the two rounds of consultation were consolidated and validated through an Advisory Board face to face meeting with eight clinical experts that took place[neurologia.com] regression.[centogene.com] The former patient showed moderate mental retardation; however, seizure was controlled to almost one incident a year by levetiracetam and topiramate.[ncbi.nlm.nih.gov]

  • Early Infantile Epileptic Encephalopathy Type 2

    face Autistic behavior Wide nasal bridge Micrognathia Myopia Autism Abnormality of cardiovascular system morphology Microtia Postnatal growth retardation Inability to walk[mendelian.co] One patient showed psychomotor regression after 1 year of normal development.[genome.jp] A new familial form of convulsive disorder and mental retardation limited to females. J. Pediatr. 79, 726–732 (1971). 11 Fabisiak, K. & Erickson, R.P.[dx.doi.org]

  • Autism

    Her clinical features included hypotonia and feeding difficulties during infancy, coarse face with notably prominent forehead, prominent eyebrows, broad flat nasal bridge[ncbi.nlm.nih.gov] […] retardation [ Back to Top ] Childhood Disintegrative Disorder (299.10 DSM-IV) The central feature of Childhood Disintegrative Disorder is a marked regression in multiple[autism-society.org] Dyskinetic movement disorder among adults with mental retardation: Phenomenology and co-occurrence with stereotypy. American Journal of Mental Retardation, 101, 118–129.[dx.doi.org]

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