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Results 1 - 10 of 144 for Microcephaly
  1. Autosomal recessive primary microcephaly 
    Autosomal recessive primary microcephaly (often shortened to MCPH, which stands for "microcephaly primary hereditary") is a condition in which infants are born with ...
    https://medlineplus.gov/.../autosomal-recessive-primary-microcephaly - Genetics
  2. Amish lethal microcephaly 
    Amish lethal microcephaly is a disorder in which infants are born with a very small head and underdeveloped brain.Infants with Amish lethal microcephaly have ...
    https://medlineplus.gov/genetics/condition/amish-lethal-microcephaly - Genetics
  3. Mandibulofacial dysostosis with microcephaly 
    Mandibulofacial dysostosis with microcephaly (MFDM) is a disorder that causes abnormalities of the head and face. People with this disorder often have an unusually small ...
    https://medlineplus.gov/...dibulofacial-dysostosis-with-microcephaly - Genetics
  4. Microcephaly, seizures, and developmental delay 
    Microcephaly, seizures, and developmental delay (MCSZ) is a condition characterized by an abnormally small head size (microcephaly) and neurological problems related ...
    https://medlineplus.gov/...ocephaly-seizures-and-developmental-delay - Genetics
  5. Microcephaly-capillary malformation syndrome 
    Microcephaly-capillary malformation syndrome is an inherited disorder characterized by an abnormally small head size (microcephaly) and abnormalities of small blood ...
    https://medlineplus.gov/...rocephaly-capillary-malformation-syndrome - Genetics
  6. Nijmegen breakage syndrome 
    ... by short stature, an unusually small head size (microcephaly), distinctive facial features, recurrent respiratory tract infections, an ... normal rate but remain shorter than their peers. Microcephaly is apparent from birth in the majority of ...
    https://medlineplus.gov/.../condition/nijmegen-breakage-syndrome - Genetics
  7. Feingold syndrome 
    ... Feingold syndrome include an unusually small head size (microcephaly), a small jaw (micrognathia), a narrow opening of ... sufficient to cause the disorder. Brunner-Winter syndrome Microcephaly-mesobrachyphalangy-tracheoesophageal fistula (MMT) syndrome Microcephaly-oculo-digito- ...
    https://medlineplus.gov/genetics/condition/feingold-syndrome - Genetics
  8. CASK-related intellectual disability 
    ... of brain development that has two main forms: microcephaly with pontine and cerebellar hypoplasia (MICPCH), and X- ... is getting smaller as the body grows (progressive microcephaly). Individuals with this condition have underdevelopment (hypoplasia) of ...
    https://medlineplus.gov/.../cask-related-intellectual-disability - Genetics
  9. Asparagine synthetase deficiency 
    ... this condition have an unusually small head size (microcephaly) that worsens over time due to loss (atrophy) ... symptoms of the condition. ASNS deficiency ASNSD Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome Disorder of ...
    https://medlineplus.gov/.../asparagine-synthetase-deficiency - Genetics
  10. Christianson syndrome 
    ... with Christianson syndrome include a small head size (microcephaly); a long, narrow face with prominent nose, jaw, ... P. SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. ...
    https://medlineplus.gov/genetics/condition/christianson-syndrome - Genetics
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