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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[news-medical.net] […] tone ( hypotonia ).[en.wikipedia.org] […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[orpha.net]

  • 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.[pediatrics.aappublications.org] Low or weak muscle tone 0001252 Neurological speech impairment Speech disorder Speech impairment Speech impediment [ more ] 0002167 Open mouth Gaped jawed appearance Gaped[rarediseases.info.nih.gov] ), lax ligamenta, vertebral anomalies, hypotonia, and peculiar facies and digits.[whonamedit.com]

    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[rarediseases.org] The common abnormalities include hypertrichosis and hirsuitism,heavy eyebrows, prominent beaked nose,hypoplastic maxilla, lowest ears and skeletal anomalies including broad[ispub.com] […] iliac wings 0002869 Flexion contracture 0001371 Frontal bossing 0002007 Frontal upsweep of hair Cowlick Frontal Cowlick Upswept frontal hair [ more ] 0002236 Generalized hypotonia[rarediseases.info.nih.gov]

    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.[rarediseases.org]

    Missing: Mutation in the MLL Gene
  • Alpha-Mannosidosis

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

    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[en.wikipedia.org] 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[maxcachiafund.org] & liver Infantile type Hypoketotic hypoglycemia Hepatic dysfunction: Hepatomegaly Cardiomyopathy: Hypertrophic Prognosis: High mortality CNS: Encephalopathy; Hypotonia Lab[neuromuscular.wustl.edu]

    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.[mitomap.org] […] that grow together (synophrys); long, curly eyelashes; and/or excessive hair growth on various areas of the body (hypertrichosis).[rarediseases.org] […] weakness Central hypotonia Dementia Increased CSF lactate Generalized tonic seizures Epilepsia partialis continua Visual loss Talipes cavus equinovarus Focal T2 hypointense[mendelian.co]

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

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

    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[findzebra.com] A condition (OMIM:614562) characterised by severe mental and psychomotor retardation, muscle hypotonia and poor expressive speech.[medical-dictionary.thefreedictionary.com] […] that grow together (synophrys); long, curly eyelashes; and/or excessive hair growth on various areas of the body (hypertrichosis).[rarediseases.org]

  • 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[…][ncbi.nlm.nih.gov]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene

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