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Results 1 - 10 of 104 for Facial hypotonia
  1. KCNK9 imprinting syndrome 
    ... syndrome Intellectual disability, Birk-Barel type Intellectual disability-hypotonia-facial dysmorphism syndrome Mental retardation with hypotonia and facial ...
    https://medlineplus.gov/genetics/condition/kcnk9-imprinting-syndrome - Genetics
  2. Down syndrome 
    ... that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone (hypotonia) in infancy. All affected individuals experience cognitive delays, ...
    https://medlineplus.gov/genetics/condition/down-syndrome - Genetics
  3. SRD5A3-congenital disorder of glycosylation 
    ... SRD5A3-CDG have intellectual disability, vision problems, unusual facial features, low muscle tone (hypotonia), and problems with coordination and balance (ataxia). Vision ...
    https://medlineplus.gov/...d5a3-congenital-disorder-of-glycosylation - Genetics
  4. Central core disease 
    ... infants experience weakness in the muscles of the face, profound low muscle tone (hypotonia), and serious or life-threatening breathing problems.Many ...
    https://medlineplus.gov/genetics/condition/central-core-disease - Genetics
  5. Menkes syndrome 
    ... Additional signs and symptoms include weak muscle tone (hypotonia), sagging facial features, seizures, developmental delay, and intellectual disability. Children ...
    https://medlineplus.gov/genetics/condition/menkes-syndrome - Genetics
  6. 5q31.3 microdeletion syndrome 
    ... mouth with a tented lip and an expressionless face, are thought to be due to hypotonia.Recurrent seizures (epilepsy) and seizure-like episodes (which ...
    https://medlineplus.gov/.../condition/5q313-microdeletion-syndrome - Genetics
  7. SLC35A2-congenital disorder of glycosylation 
    ... CDG often have abnormal brain function (encephalopathy), unusual facial features, skeletal abnormalities, and weak muscle tone (hypotonia) with poor head control. They also have severe ...
    https://medlineplus.gov/...35a2-congenital-disorder-of-glycosylation - Genetics
  8. Fukuyama congenital muscular dystrophy 
    ... weak cry, difficulty feeding, and weak muscle tone (hypotonia). Weakness of the facial muscles often leads to a distinctive facial appearance ...
    https://medlineplus.gov/.../fukuyama-congenital-muscular-dystrophy - Genetics
  9. Au-Kline syndrome 
    ... Satomura K. New MCA/MR syndrome with generalized hypotonia, congenital hydronephrosis, and characteristic face. Am J Med Genet. 1997 Jan 31;68( ...
    https://medlineplus.gov/genetics/condition/au-kline-syndrome - Genetics
  10. Pallister-Killian mosaic syndrome 
    ... condition is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, intellectual disability, distinctive facial features, sparse hair, areas of unusual skin coloring ( ...
    https://medlineplus.gov/.../pallister-killian-mosaic-syndrome - Genetics
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