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7 Possible Causes for Microcephaly (2-3 SD, Muscular Atrophy, Ocular Muscle Palsies

Showing results for: Microcephaly (2-3 SD, Muscular Atrophy, Ocular Muscle Palsies
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  • Blepharofacioskeletal Syndrome

    […] at 2y)SmitheLemlieOpitzsyndrome[Porter, 2008]Short Stature (8 SD) (7 SD) Microcephaly (3 SD) (3 SD) Failure to gain weight Low birth weight Skin abnormalities Transient non-pitting[dokument.tips] atrophy, Huntington’s disease, Dementia with Lewy bodies, spinal muscular atrophy, neuromyelitis optica, major depressive disorder, schizophrenia, glaucoma or peripheral[nrf2.com] atrophy, Progressive bulbar palsy, Pseudobulbar palsy, Primary lateral sclerosis, Motor neurone disease Anderson-Fabry disease Androgen insensitivity syndrome AIS, Androgen[socialstyrelsen.se]

  • Dysequilibrium Syndrome

    Microcephaly (-3 to -4 SD below the mean) has been reported in a few affected individuals. Life span.[ncbi.nlm.nih.gov] Additional features, including progressive motor degeneration (similar to that in spinal muscular atrophy ) in PCH type 1, and dyskinesia in PCH type 2, are distinguishing[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]

  • Autosomal Dominant Microcephaly

    In that regard we can distinguish borderline microcephaly at 2 SD below the mean that might be acquired and microcephaly of more than 3 or even 4 SD below the mean, which[news-medical.net] Autosomal recessive SMN1 5q13.2 Spinal muscular atrophy-2 253550 600354 Autosomal recessive SMN1 5q13.2 Spinal muscular atrophy-1 253300 600354 Autosomal recessive SMN1 5q13.2[mnglabs.com] A difference of opinion exists as to whether the lower limit of a normal head circumference should be defined as 2 or 3 SD below the mean ( Avery et al., 1972 ).[mhmedical.com]

  • Autosomal Dominant Mental Retardation Type 21

    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] Atrophy (SMA) SMN1, SMN2, 5q13 P021 Spinal Muscular Atrophy (SMA) SMN1, SMN2, 5q13 P060 Startle disease, Hyperekplexia GLRB 4q32.1, GLRA1 5q33.1, SLC6A5 11p15.1 P274 Subtelomeric[invitrotek.com.tr] […] atrophy Developmental regression Microcephaly Cerebral palsy Abnormality of the eye Reduced visual acuity Dystonia Hearing impairment Sensory impairment Broad-based gait[mendelian.co]

  • Isolated Agammaglobulinemia

    […] findings: 1. microcephaly 2. typical facial appearance 3. lymphoma, leukaemia 4. serum IgG and IgA more than 2 SD below normal for age 5.[esid.org] The following genes are required for Invitae carrier screening and will be added to your order, CFTR (cystic fibrosis), SMN1 (spinal muscular atrophy), FMR1 (fragile X syndrome[invitae.com] […] abduction Aplasia of the pectoralis major muscle Hypertensive crisis Glandular hypospadias Aplasia/Hypoplasia of the tongue Nocturnal hypoventilation Laryngeal stenosis Trismus[mendelian.co]

  • Autosomal Dominant Congenital Nystagmus 3

    Sheriff and Hegab (1988) described a Kuwaiti family in which 3 sibs, 2 boys and a girl, had true microcepha...[findzebra.com] atrophy (SMA) P409-RASA1-EPHB4 Capillary malformations; Parkes Weber syndrome P419-CDKN2A/2B-CDK4 Familial melanoma P389-MLL2 Kabuki syndrome P324-22q11 22q11 P202-IKZF1-[mlpa.com] Infantile nystagmus often (even up to 50%) comes with esotropia and is combined with some vertical movement disorders (congenital form of fourth muscle palsy or dissociated[intechopen.com]

  • 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] Atrophy with Mental Retardation Spinal Muscular Atrophy with Microcephaly and Mental Subnormality split hand-foot malformation Split-Hand with Obstructive Uropathy, Spina[rgd.mcw.edu] […] atrophy Developmental regression Microcephaly Cerebral palsy Abnormality of the eye Reduced visual acuity Dystonia Hearing impairment Sensory impairment Broad-based gait[mendelian.co]

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