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93 Possible Causes for Delayed Psychomotor Development - Variable

  • Cerebellar Stroke

    Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities[orpha.net] The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.[orpha.net]

  • Mowat-Wilson Syndrome

    Studies of genotype-phenotype analysis show that facial gestalt and delayed psychomotor development are constant clinical features, while the frequent and severe congenital[ncbi.nlm.nih.gov] […] malformations are variable.[ncbi.nlm.nih.gov]

  • Laron Syndrome with Immunodeficiency

    psychomotor development, intellectual disability (ID), hypotonia, and behavioral abnormalities.[mendelian.co] Additional features include contractures, feeding difficulties, and variable dysmorphic facial features.[mendelian.co] HYDRANENCEPHALY Other less relevant matches: Low match PRADER-WILLI SYNDROME DUE TO A POINT MUTATION SHFYNG syndrome is an autosomal dominant multisystem disorder characterized by delayed[mendelian.co]

  • Laron Syndrome

    Her psychomotor development, extremely delayed at diagnosis, improved significantly following the introduction of therapy.[hormones.gr] Large variability, ranging from normal intelligence to severe mental retardation has been reported 22.[hormones.gr]

  • Baller-Gerold Syndrome

    Gerold A disorder characterized by craniosynostosis and hypoplasia or absence of a radius, delayed psychomotor development, and variable craniofacial, cardiac, renal, and[whonamedit.com] The Baller-Gerold Syndrome is a genetically determined growth deficiency syndrome with premature craniosynostosis, hypoplasia or the absence of a radius, delayed psychomotor[ijps.org] development and variable craniofacial, cardiac, renal and skeletal defects. [10], [11] Due to premature fusion of the fibrous joints between certain bones in the skull (craniosynostosis[ijps.org]

  • Foveal Hypoplasia - Presenile Cataract Syndrome

    Learn more Other less relevant matches: High match HAREL-YOON SYNDROME; HAYOS Harel-Yoon syndrome is a syndromic neurodevelopmental disorder characterized by delayed psychomotor[mendelian.co] Other more variable features such as optic atrophy may also occur.[mendelian.co] development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy.[mendelian.co]

  • Autosomal Recessive Spinocerebellar Ataxia 18

    SCAR18 features include progressive cerebellar atrophy, delayed psychomotor development, severely impaired gait, ocular movement abnormalities, and intellectual disability[uniprot.org] SCAR20 is characterized by cerebellar atrophy, ataxia, coarsened facial features, severely delayed psychomotor development with poor or absent speech, and intellectual disability[genecards.org] Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement[uniprot.org]

  • Micrognathism

    psychomotor development; Intellectual disability; Speech delay; Seizures; Dyspraxia; Ataxia; Clumsiness; Sleep disorders; [Behavioral/psychiatric manifestations]; Autism[findzebra.com] […] spectrum disorder; Obsessive-compulsive disorder; Attention deficit-hyperactivity disorder (ADHD); Happy demeanor MISCELLANEOUS: Variable phenotype; Incomplete penetrance;[findzebra.com] Congenital heart defects ABDOMEN: [Gastrointestinal]; Poor feeding SKELETAL: [Hands]; Slender fingers MUSCLE, SOFT TISSUE: Hypotonia NEUROLOGIC: [Central nervous system]; Delayed[findzebra.com]

  • PHACE Syndrome

    Other manifestations such as headaches or delayed psychomotor development may also be caused by the same ischemic aetiology.[orpha.net] The resulting neurological symptoms are variable, depending on the size and associated territory of the occluded vessels.[orpha.net]

  • Mitochondrial Trifunctional Protein Deficiency

    Variable clinical manifestations include hypoglycemia, cardiomyopathy, delayed psychomotor development, sensorimotor axonopathy, generalized weakness, hepatic dysfunction,[uniprot.org]

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