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2,202 Possible Causes for Hypertrichosis of Eyebrows, Muscle Hypotonia, Mutation in the MLL Gene

  • Wiedemann-Steiner Syndrome

    Utilizing a whole-exome sequencing approach, the group identified de novo mutations in the mixed lineage leukemia ( MLL ) gene in five of six individuals with the syndrome[] […] tone ( hypotonia ).[] […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[]

  • Coffin-Lowry Syndrome

    Muscle hypotonia and decreased or abolished muscle stretch reflexes are noted, whereas eye movements and sometimes verbal communication are possible. 8 TABLE 2.[] Low or weak muscle tone 0001252 Neurological speech impairment Speech disorder Speech impairment Speech impediment [ more ] 0002167 Open mouth Gaped jawed appearance Gaped[] ), lax ligamenta, vertebral anomalies, hypotonia, and peculiar facies and digits.[]

    Missing: Mutation in the MLL Gene
  • Rubinstein-Taybi Syndrome

    In addition, there may be diminished muscle tone (hypotonia), abnormally exaggerated reflexes (hyperreflexia), a stiff, unsteady gait, infrequent bowel movements (constipation[] The common abnormalities include hypertrichosis and hirsuitism,heavy eyebrows, prominent beaked nose,hypoplastic maxilla, lowest ears and skeletal anomalies including broad[] […] iliac wings 0002869 Flexion contracture 0001371 Frontal bossing 0002007 Frontal upsweep of hair Cowlick Frontal Cowlick Upswept frontal hair [ more ] 0002236 Generalized hypotonia[]

    Missing: Mutation in the MLL Gene
  • Marshall-Smith Syndrome

    Other symptoms include diminished muscle tone (hypotonia), muscle weakness, hernias in the abdomen (umbilical hernias), and/or mental retardation.[]

    Missing: Mutation in the MLL Gene
  • Alpha-Mannosidosis

    (hypotonia), and reduced sensation or other nervous system abnormalities in the extremities (peripheral neuropathy).[] Symptoms of the moderate form of alpha-mannosidosis include: coarse facial features hypotonia skeletal abnormalities mental retardation progressive muscle weakness hearing[] In this report, the most common presenting symptom was hypotonia (75%), and muscle weakness was a presenting symptom in 59% of patients.[]

    Missing: Mutation in the MLL Gene
  • Roifman Syndrome

    Offspring of those with WSS have a 50% chance of having WSS. [6] The mechanism by which mutations in the MLL gene cause the phenotype of Wiedemann–Steiner syndrome is not[] Patients with Roifman syndrome have been noted to be short in stature with the following features: Condensed trunk area Limited hip movement Diminished muscle tone (hypotonia[] & liver Infantile type Hypoketotic hypoglycemia Hepatic dysfunction: Hepatomegaly Cardiomyopathy: Hypertrophic Prognosis: High mortality CNS: Encephalopathy; Hypotonia Lab[]

    Missing: Hypertrichosis of Eyebrows
  • Autosomal Dominant Mental Retardation Type 21

    A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.[] […] that grow together (synophrys); long, curly eyelashes; and/or excessive hair growth on various areas of the body (hypertrichosis).[] […] weakness Central hypotonia Dementia Increased CSF lactate Generalized tonic seizures Epilepsia partialis continua Visual loss Talipes cavus equinovarus Focal T2 hypointense[]

    Missing: Mutation in the MLL Gene
  • Beckwith-Wiedemann Syndrome

    […] nasal bridge, hypoplastic philtrum and prominent jaw, low posterior hairline, and hypertrichosis.[] The patient had mild psychomotor delay and a peculiar facial appearance, with horizontal eyebrows with synophrys, downslanting palpebral fissures with epicanthic folds, narrow[]

    Missing: Mutation in the MLL Gene
  • Autosomal Dominant Mental Retardation Type 5

    […] in the myeloid/lymphoid or mixed lineage leukemia gene (MLL, 159555.0001) Description A number sign (#) is used with this entry because mitochondrial DNA depletion syndrome[] A condition (OMIM:614562) characterised by severe mental and psychomotor retardation, muscle hypotonia and poor expressive speech.[] […] that grow together (synophrys); long, curly eyelashes; and/or excessive hair growth on various areas of the body (hypertrichosis).[]

  • Hyponatremia

    BACKGROUND: To investigate the prognostic value of hyponatremia, defined as serum sodium level METHODS: We performed a retrospective analysis of the RN patients (The patients included in our study had a history of primary cancers including nasopharyngeal carcinoma/glioma/oral cancer and received radiotherapy[…][]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene

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