ORPHA:319671 Synonym(s): Alazami syndrome Prevalence: Inheritance: - Age of onset: Antenatal, Neonatal ICD-10: Q87.1 OMIM: 615071 UMLS: - MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented for information purposes only. [orpha.net]

Thus, a review of the utility and limitations of these techniques and recommendations regarding present and future application in the clinical setting are presented in this study. [stanfordchildrens.org]

Results : We describe a multiplex consanguineous Saudi family in which two full siblings and one half-sibling presented with classical features of Seckel syndrome in addition to optic nerve hypoplasia. [pubfacts.com]

Indeed, the present patient exhibited a relatively normal height up to 2 years of age. Third, the present patient has hypospadias, which has not been observed in any previously reported patients. [nature.com]

• Movement Disorder

  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]

• Macrostomia

  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]

• Thrombosis

  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]

• Muscular Atrophy

  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]

• Low Set Ears

  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]

• Neurologic Manifestation

  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]

• Myoclonus

  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]

Similarly, becausethalassemias and hemoglobinopathies are the most fre- quent Mendelian diseases in Saudi Arabia (see below), hematologists usually take care of counseling these families and only refer the most atypical cases to clinical genetics for workup [docslide.net]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Russell-Silver syndrome This is the one form of primordial dwarfism that sometimes responds to treatment with growth hormones. [healthline.com]

MSSP patients require life-long treatment and support. Treatment is focused on symptoms and may include physical therapy, speech therapy and educational aids. Anti-epileptic medications are administered in the case of seizures. [cags.org.ae]

Only patients with root canal fillings (or treatment planned for endodontic treatment) were included. Patients with intellectual disabilities, surgical root therapy, and aged under 20 were excluded. [readbyqxmd.com]

This report further characterizes this condition and helps to delineate the long-term prognosis in these patients. [stanfordchildrens.org]

The etiology of her pattern of malformation was not identified at that time. [stanfordchildrens.org]

[…] synonyms) Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]

Al-Qahtani ] - Department of Pediatrics, King Khalid University, Abha, Saudi Arabia [ Tarfa Alsheddi ] - Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia [ Dilek Colak ] - Department of Biostatistics, Epidemiology [scipers.com]

Relevant External Links for LARP7 Genetic Association Database (GAD) LARP7 Human Genome Epidemiology (HuGE) Navigator LARP7 Atlas of Genetics and Cytogenetics in Oncology and Haematology: LARP7 No data available for Genatlas for LARP7 Gene Loss of function [genecards.org]

In spite of the multiplicity of the studies concerned with exploring the disease epidemiology and nature worldwide, data from Saudi Arabia are lacking. The aim of this study was to study the prevalence of migraine in Taif city, Saudi Arabia. [readbyqxmd.com]

Using the Fetal Alcohol Syndrome Epidemiologic Research (FASER) database, we investigated how maxillary and mandibular arcs and the ratio between them differ between FASD and non-FASD individuals. [stanfordchildrens.org]

AASS 104 95 238700 Hyperlysinemia ABAT 82 86 613163 GABA-transaminase deficiency ABCD1 59 84 300100 Adrenoleukodystrophy More information Inborn Errors of Metabolism Intensive Care Nursery House Staff Manual Inborn Errors of Metabolism INTRODUCTION and PATHOPHYSIOLOGY [docplayer.net]

Within the 7SK RNP complex, the positive transcription elongation factor b (P-TEFb) is sequestered in an inactive form, preventing RNA polymerase II phosphorylation and subsequent transcriptional elongation. [ghr.nlm.nih.gov]

Moreover, knockdown of PIP7S with shRNA prevented formation of the 7SK snRNP and enhanced P-TEFb-dependent expression of a human immunodeficiency virus (HIV)-1 long terminal repeat(LTR)-driven reporter gene. [cloud-clone.com]

Protein coding - A0A0G2JFW4 - 3' truncation in transcript evidence prevents annotation of the end of the CDS. CDS 3' incomplete Transcript Support Level 3, when transcripts are supported by a single EST only. [ensembl.org]