Create issue ticket

4 Possible Causes for Microcephaly (2-3 SD, Poor Coordination of the Lower Extremity, Slow Speech

Showing results for: Microcephaly (2-3 SD, Poor Coordination of the Lower Extremity, Slow Speech
Search instead for: Microcephaly (2-3 SD), Poor Coordination of the Lower Extremity, Slow Speech

  • Dysequilibrium Syndrome

    Microcephaly (-3 to -4 SD below the mean) has been reported in a few affected individuals. Life span.[ncbi.nlm.nih.gov] Short stature (height just below the 2 nd centile) is a feature in a few affected individuals. Deep tendon reflexes in the lower extremities tend to be brisk.[ncbi.nlm.nih.gov]

  • Helsmoortel-van der Aa Syndrome

    A common finding in microcephaly is also short stature, typically between -1 SD and -2 SD and in Seckel syndrome it ranges between -4 and -12 SD 3.[centogene.com] SCA8 SCA-8 is a slowly progressive ataxia resulting in poor coordination of limbs, especially lower extremities, and poor coordination of gait and speech.[ataxiacenter.umn.edu] […] ribose-5-phosphate Deficiency leads to accumulation of pentoses & pentose phosphates Epidemiology: Single patient identified Onset Early childood Psychomotor retardation: Slow[neuromuscular.wustl.edu]

  • Autosomal Dominant Mental Retardation Type 24

    A common finding in microcephaly is also short stature, typically between -1 SD and -2 SD and in Seckel syndrome it ranges between -4 and -12 SD 3.[centogene.com] SCA8 SCA-8 is a slowly progressive ataxia resulting in poor coordination of limbs, especially lower extremities, and poor coordination of gait and speech.[ataxiacenter.umn.edu] Disorder may be a simple slowing of speech or may manifest as a slurring and scanning Dysarthria called because the words are broken into syllables.[slideshare.net]

  • Autosomal Recessive Mental Retardation Type 3

    […] reviews BIALLELIC, autosomal or pseudoautosomal Sources Expert Review Green NHS GMS Other Phenotypes Microcephaly, epilepsy, and diabetes syndrome, 614231 Microcephaly (-3[panelapp.genomicsengland.co.uk] People with this type of ataxia share many characteristic symptoms including: frequent falls due to poor balance imprecise hand coordination postural or kinetic tremor of[en.wikipedia.org] EEG abnormalities often occur during sleep and may manifest as continuous spike-wave discharges during slow-wave sleep (CSWS or CSWSS).[mendelian.co]