94 Paroxysmal Dyskinesias E-1637 95 Movement Disorders of Infancy E-1646 96 DrugInduced Movement Disorders in Children E-1651 97 Cerebral Palsy E-1660 98 Tics and Tourette Syndrome E-1673 99 Genetic and Metabolic Disorders of the White Matter E-1690 100 [books.google.com]

MOVEMENT DISORDERS GENE PANEL MOVEMENT DISORDERS GENE PANEL Gene Depth Coverage OMIM symbol (reads) (avg %) disease Description KCNC3 56 48 605259 Spinocerebellar ataxia 13 AP4E1 130 95 613744 Spastic paraplegia 51 autosomal recessive More information [docplayer.net]

Arctic type Hereditary cerebral hemorrhage with amyloidosis, Dutch type Hereditary cerebral hemorrhage with amyloidosis, Flemish type Hereditary cerebral hemorrhage with amyloidosis, Iowa type Hereditary cerebral hemorrhage with amyloidosis, Italian [csbg.cnb.csic.es]

[…] syndrome type 1 Alpha-B Crystallinopathy with Cataract Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis Amish Lethal Microcephaly Amyloidosis [rgd.mcw.edu]

ALAZS patients manifest severe intellectual disability and distinct facial features including malar hypoplasia, deep-set eyes, broad nose, short philtrum, and macrostomia. [malacards.org]

[…] embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia [orpha.net]

Pressure E-1868 106 Spinal Cord Injury E-1882 107 Determination of Brain Death in Infants and Children E-1910 108 Development and Function of the Cerebrovascular System E-1931 109 Arterial Ischemic Stroke in Infants and Children E-1941 110 Sinovenous Thrombosis [books.google.com]

C12orf57 Temtamy syndrome, 218340 FLNA Terminal osseous dysplasia, 300244 JAG1 Tetralogy of Fallot, 187500 FGFR3 Thanatophoric dysplasia, type I, 187600 FGFR3 Thanatophoric dysplasia, type II, 187601 MTHFR Thromboembolism, susceptibility to, 188050 CBS Thrombosis [gsdseq.ir]

Atrophy Mutation Pedigree RNA, Untranslated Ribonucleoproteins Syndrome Young Adult Pub Type(s) Journal Article Research Support, Non-U.S. [unboundmedicine.com]

More information Neuromuscular diseases Neuromuscular diseases Spinal muscular atrophy - SMA characterized by degeneration of the anterior horn cells in the spinal cord and motor nuclei in the lower brainstem. [docplayer.net]

Atrophy with Mental Retardation Spinal Muscular Atrophy with Microcephaly and Mental Subnormality Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type Spondyloepimetaphyseal Dysplasia, Genevieve Type Spondyloepiphyseal Dysplasia Tarda with Mental Retardation [rgd.mcw.edu]

atrophy, distal, X-linked 3, 300489 DYNC1H1 Spinal muscular atrophy, lower extremity-predominant, AD, 158600 ITPR1 Spinocerebellar ataxia 15, 606658 ITPR1 Spinocerebellar ataxia 29, congenital nonprogressive, 117360 ANO10 Spinocerebellar ataxia, autosomal [gsdseq.ir]

Affiliated tissues include eye, and related phenotypes are malar flattening and low-set ears [malacards.org]

[…] type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set [orpha.net]

ears Low set ears Lowset ears [ more ] 0000369 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ] 0000252 Micrognathia Little lower jaw Small jaw [rarediseases.info.nih.gov]

Manifestations of Rheumatic Disorders of Childhood E-2172 123 Medulloblastoma E-2211 124 Other Embryonal and Pineal Malignancies of the Central Nervous System E-2221 125 Ependymoma E-2225 126 Pediatric Brain Tumors HighGrade Glioma E-2236 127 Pediatric [books.google.com]

Parasitic Diseases of the Nervous System E-2075 117 Neurologic Complications of Immunization E-2132 118 Paraneoplastic Neurologic Syndromes E-2142 119 ImmuneMediated Epilepsy Movement Disorders and Hashimotos Encephalopathy in Children E-2150 120 Opsoclonus Myoclonus [books.google.com]