This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly.
Alpha-thalassemia mental retardation syndrome
Alpha-thalassemia mental retardation syndrome - Wikipedia
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A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes i. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Mental retardation and distinctive facial features with or without cardiac defects MRFACD is an autosomal dominant, complex syndromic neurodevelopmental disorder characterized by delayed psychomotor development, poor speech acquisition, distinctive dysmorphic facial features, including frontal bossing, upslanting palpebral fissures, depressed nasal bridge with bulbous tip, and macrostomia. Additional description. From GHR MED13L syndrome is a developmental disorder characterized by developmental delay, intellectual disability, and minor differences in facial features.
MED13L syndrome is a developmental disorder characterized by developmental delay, intellectual disability, and minor differences in facial features. Additionally, some people with this condition have recurrent seizures epilepsy or heart abnormalities that are present from birth congenital heart defects. Intellectual disability and developmental delay are usually moderate to severe in people with MED13L syndrome. Weak muscle tone hypotonia and delayed development of motor skills, such as sitting, standing, and walking, are early symptoms of the condition. After learning to walk, some affected individuals continue to have difficulty with coordination and balance ataxia.