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1,726 Possible Causes for Cognitive Developmental Delay, Non-Hemolytic Unconjugated Hyperbilirubinemia, Psychomotor Development Delayed

  • Early Infantile Epileptic Encephalopathy Type 6

    We report on a patient who developed, from 5 months of age, multiple seizure types, including myoclonic, associated with severe psychomotor delay, leading to the diagnosis[ncbi.nlm.nih.gov] , resulting from exacerbated hemolysis) Chronic, non-immune hemolytic anemia High mean corpuscular hemoglobin concentration (MCHC) Presence of spherocytes in the peripheral[centogene.com] Disease onset occurs in the first year of life, followed by developmental delay with cognitive and behavioral dysfunction and substantially elevated risk of premature death[ncbi.nlm.nih.gov]

  • Hartnup Disease

    Hartnup disease Other names Aminoaciduria, Hartnup type Tryptophan Specialty Endocrinology Hartnup disease has an autosomal recessive pattern of inheritance. Hartnup disease (also known as "pellagra-like dermatosis"[1] and "Hartnup disorder"[2]) is an autosomal recessive[3] metabolic disorder affecting the[…][en.wikipedia.org]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Autosomal Recessive Spinocerebellar Ataxia 18

    SCAR18 features include progressive cerebellar atrophy, delayed psychomotor development, severely impaired gait, ocular movement abnormalities, and intellectual disability[malacards.org] […] with Opitz/BBB syndrome are also characterized by developmental delay, ataxia, and midline abnormalities, including hypertelorism, cleft lip/palate, esophagolaryngotracheal[ajnr.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]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Waisman Syndrome

    Definition A neurologic disorder characterized by delayed psychomotor development, intellectual disability, and early-onset Parkinson disease.[uniprot.org] delay, cognitive impairment, macroencephaly, and, in some, seizures; EO parkinsonism with tremor appeared subsequently as the presenting symptom.[ng.neurology.org] Related phenotypes are dementia and macrocephaly UniProtKB/Swiss-Prot : 74 Waisman syndrome: A neurologic disorder characterized by delayed psychomotor development, intellectual[malacards.org]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Amish Lethal Microcephaly

    psychomotor development, brain malformations, and episodic encephalopathy associated with lactic acidosis, alpha-ketoglutaric aciduria and death within the first year.[medical-dictionary.thefreedictionary.com] developmental delays; short heights; and skeletal abnormalities.Lifespan is average in length, though.[owlcation.com] Get Update Overview Amish type microcephaly is a severe autosomal recessive metabolic disorder characterized by severe microcephaly apparent at birth, profoundly delayed psychomotor[diseaseinfosearch.org]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Early Infantile Epileptic Encephalopathy Type 2

    The signs of Ohtahara syndrome are: tonic seizures (stiffening of limbs) psychomotor development delay (delay in development of mental and motor skills) there may development[contact.org.uk] Patients with a SYNGAP1 mutation have a developmental delay, cognitive regression and some patients have a autism.[molgen.ua.ac.be] She had delayed psychomotor development no verbal communication skills, marked intellectual impairment, and scoliosis.[genome.jp]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Early Infantile Epileptic Encephalopathy Type 17

    Psychomotor development is significantly delayed. Detailed diagnostic tests have not revealed any metabolic or structural abnormalities of the brain.[ncbi.nlm.nih.gov] […] featuring moderate developmental delay associated with complex stereotypies, mainly facial dyskinesia, and mild epilepsy.[genecards.org] Clinical features range from severe motor and cognitive impairment with marked choreoathetosis, self-injurious behavior and epileptic encephalopathy, to a milder phenotype[genecards.org]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Autosomal Recessive Spastic Paraplegia Type 54

    SPG54 patients have delayed psychomotor development, intellectual disability, and early-onset spasticity of the lower limbs.[uniprot.org] Patients suffer delayed psychomotor development, mental retardation, and early-onset (by age 2 years) spasticity of the lower limbs.[cags.org.ae]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Alexander Disease

    The main characteristics of infantile and juvenile AxD include delayed psychomotor development or mental retardation, convulsions, macrocephaly, and predominant cerebral white[ncbi.nlm.nih.gov] Typically type I patients experience a variety of developmental delays, affecting both cognitive and motor skills (such as language or walking), followed by loss of milestones[waisman.wisc.edu] Phenotype of these patients were consistent with type I AxD described in other population, with developmental delay (motor delay in 81.82%, cognitive delay in 63.64%), macrocephaly[ncbi.nlm.nih.gov]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Mitochondrial Trifunctional Protein Deficiency

    Variable clinical manifestations include hypoglycemia, cardiomyopathy, delayed psychomotor development, sensorimotor axonopathy, generalized weakness, hepatic dysfunction,[uniprot.org] Development (general) In children who have delayed development due to metabolic crises, management should include developmental therapies for cognitive and motor issues.[medicalhomeportal.org] Specialty Collaborations & Other Services Developmental - Behavioral Pediatrics (see Services below for local providers) Referral may be helpful to clarify developmental delays[medicalhomeportal.org]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia

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