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31501 to 31600 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Short Wide Flat Thorax
Open Posterior Fontanelle
Severe Growth Retardation if Untreated
Non-Goitrous Hypothyroidism
Genetic Heterogeneity - See SPG5A for Overview of Recessive SPGs
Other Tumors May Also Occur
Caused by Mutation in the Homolog of the E Coli mutS 2 Gene
Mutation in the Homolog of the E Coli MutL1 Gene
Functional Ovaries
Aplastic Fallopian Tubes
Congenital Absence or Severe Hypoplasia of Uterus
Dysgenesis of Mullerian Duct Derivatives
Aplasia of Mullerian Duct Derivatives
Normal External Genitalia
Normal Female Secondary Sexual Characteristics
Mutation in the LMBR1 Domain Containing Protein 1 Gene
Distal Atrophy of the Legs
Macroorchidism
Mood Instability
Possibly Somatic or Germline Mosaicism
Highly Variable Phenotype in Females
Mutation in the Doublecortin Gene
Limb Spasticity
Seizures Often Associated with Fever
Intellectual Disability Is Variable
Controlling and Inflexible Traits in Male Carriers
Obsessive Features in Male Carriers
Carrier Males Show Rigid Personality
Obsessive Features
Normal Development in Some Patients
Developmental Regression in about 50% of Patients
Possibly Developmental Delay from Birth
Phenotypic Similarities to Angelman Syndrome
Pointed Jaw
Low Weight (Third Percentile)
Easily Provoked Laughter
Widespread Neuronal Loss
Pronounced Overaction of the Frontalis Muscle
Absent Upper Lid Skin Crease
Allelic to Rett Syndrome
Loss of Purposeful Hand Movements
Stereotypic Hand Movements
Caused by Mutation in the Creatine Transporter Gene
Urine Creatine : Creatinine Ratio Increased
Mutation in the CUL4B Gene
Speech Impaired or Absent
Wide Sandal Gap
Short Stature - 5th Percentile
Mutation in the JARID1C Gene
Attentional and Executive Function Impaired
Impaired Visuospatial Perception
Schizophrenia-Like Symptoms
Posterior Slow-Wave Activity
Mutation in the ARHGEF9 Gene
Seizures Are Poorly Controlled
Seizures Provoked by Tactile Stimulation or Extreme Emotion
Tonic Hyperekplectic Seizures
Defect in Oxidative Phosphorylation
Malar Flatness
Bifrontal Narrowness
Generalized Severe Growth Retardation
Weight for Age Decreased
Recurrent Mycobacterial Disease (BCG and M. Tuberculosis)
Partially Responsive to Laser Treatment
Mildly Dystrophic Nails
Usually No Inflammation
Palms Soles and Oral Mucosa Are Not Involved
Extensive Cutaneous Involvement Rarely Occurs
Lesions Occur on the Trunk, Back, Arms, Legs, Abdomen, Buttocks
Lesions Often Follow Blaschko Lines
Subepidermal Capillary Ectasia
Non-Purpuric Punctate and Linear Erythematous Rash
Benign Esophageal Papillomas
Heterozygous Females May Exhibit Variable Degrees of Enzyme Deficiency
Caused by Mutation in the Phosphoglycerate Kinase 1 Gene
Hemolytic Anemia in about 60% of Patients
Activity of Phosphoglycerate Kinase 1 Decreased
Myopathy in Approximately 45% of Patients
Possibly Renal Failure with Myoglobinuria
Central Nervous System Involvement in Approximately 50% of Patients
MECP2 Mutations Are Those Found in Females with Rett Syndrome
Death Usually within First 2 Years of Life
Mutation in the MECP2 Gene
Dyskinetic Movements
Severe Neonatal Encephalopathy
Mutation in the Four-and-a-Half-LIM Domains Protein 1 Gene
Arrhythmias May Occur
Arm Weakness
Progressive Muscle Wasting
Muscle Atrophy Later in the Disease
Patients Achieve Ambulation
Symptoms Tend to Improve with Age
See Also Later Childhood Onset Form
Death in Childhood is Frequent due to Respiratory Failure
Loss of Antigravity Strength
See also Severe Early-Onset Form
Female Carriers Possibly Less Severely Affected
Cervical Hyperextension
Spinal Mobility Decreased
Inclusions Stain Positively with Nitroblue Tetrazolium