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26401 to 26500 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Mutation in the Cytochrome C Oxidase Subunit VIIb Gene
Ventricular Hypertrophy
Uninvolved Unremarkable Skin
No Intraepidermal or Subepidermal Cleavage in Perilesional Skin
Perilesional Regeneration of Dermis
Mild Perivascular Lymphocyte Infiltrate in Perilesional Skin
Patchy Erythroderma on Cheeks and Chin
Reticulolinear Skin Defects Over Face and Neck
Long Upslanting Palpebral Fissures
Eyelid Closure Limited
Posteriorly Rotated Ears
Asymmetric Face
Reticulolinear Skin Defects Congenital
Right-Sided Diaphragmatic Hernia
Asymmetric Thorax
Right-Sided Ureteral Duplication
Left-Sided Renal Agenesis
Female Carriers May Show Mild Learning Disabilities
Abnormal Positioning of the Thumbs
Mutation in the Homolog of the S Cerevisiae ALG13 Gene
Phenotypic Overlap with Desbuquois Dysplasia
Flexible Flat Feet
Single Finger Flexion Crease on 2nd, 4th and 5th Fingers
Bilateral Palmar Transverse Creases
Brachymetacarpalia
Range of Movement of Proximal Interphalangeal Joints Decreased
Radial Head Subluxation
Mild Metaphyseal Changes
Patellae Dislocation - Lateral Displacement
Vertebral Endplate Indentations
Short Supple Neck
Supernumerary Conical Tooth
Dental Crowding
Malocclusion Class 3
Hypodontia
Esotropia - Hypermetropia - Strabismus
Mild Bilateral Conductive Hearing Loss
Low Posterior Hairline
Mildly Disproportionate Short Stature
Warm and Engaging Personality
Favorable Response to Corticosteroids
Variable Involvement of Hematologic Parameters
Mutation in the GATA1 Gene
Abnormal Platelet Morphology with Paucity of Granules
Platelet Aggregation Impaired
Trilineage Dysplasia
Micromegakaryocytes
Granulocyte Hypocellularity
Bone Marrow Biopsy Shows Erythrocyte Hypocellularity
Reticulocytes Decreased
Fragmented Red Cells
Abnormal Erythrocytes in Peripheral Blood Smear
Late-Onset Thrombocytopenia
Variable Neutropenia
Allelic Disorder to CHILD Syndrome
Onset of Seizures in Infancy
Mutation in the NAD-P-H Steroid Dehydrogenase-Like Protein
Long Limbs
Caused by Mutation in the Synaptophysin Gene (SYP 313475-0001)
Congenital Macroorchidism
Mild Aminoaciduria
Mild Ocular Nuclear Density
Pancytopenia (in 2/3 Siblings)
Short Stature (in 2/3 Siblings)
Renal Insufficiency (in 2 of 3 Siblings)
Absence of the Vas Deferens and Epididymis
Bifid Scrotum
Hypothyroidism (in 1/3 Siblings)
Onset of Linear Striations between 5 Months and 6 Years
Spatulate Distal Phalanges
Duplicate Phalanges
Nephrogenic Rests
Caused by Mutation in the GATA-Binding Protein-1 Gene
Abnormal RBC Morphology
Dyserythropoietic Anemia
Bone Marrow Biopsy Shows Increased Number of Abnormal Megakaryocytes
Impaired Platelet Function
Abnormal Platelet Maturation
Platelets Have Increased Smooth Endoplasmic Reticulum
Abnormal Membrane Complexes in Platelets
Platelets Have Paucity of Granules
Fine Motor Coordination Decreased
Widespread Tau-Positive Glial and Neuronal Inclusions
Mutation in the OFD1 Gene
Affected Individuals Remain Ambulatory
Dilatation of the Aortic Sinuses
Significant Clinical Overlap with Sotos Syndrome
Most Severe Type of Von Willebrand Disease
Antigen Levels of VWF and Factor VIII Severely Decreased
Possibly Later Onset of Hearing Loss
Retinitis Pigmentosa Sector Type
Defect in Conversion of Urocanic Acid to Formiminoglutamic Acid
Episodic Aggression or Exaggerated Affection Seeking
Straight Mouth
Retrobulbar Venous Varix
Hairy Forehead
Dystonic Tongue Protrusion
Clonidine Can Alleviate Hyperhidrosis
Cold Induced Sweating Develops Late in the First Decade
High Early Mortality Rate if Untreated