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Supernumerary Carpal Ossification Centers Irregular Size of the Metacarpal Epiphyses Hitch-Hiker Appearance of the Thumb Dysplasia of the Proximal Femoral Epiphyses Limited Supination of the Elbow Shortening and Deformity of the Limbs Dysplasia of the Hip Acetabulum Reduction of the Intervertebral Spaces Posterior Cleft Palate Prenatal Growth Delay Mutation in the Zinc Finger and BTB Domain Containing Protein 24 Gene Hypomethylation of Satellite Repeats on Chromosomes 1, 9, and 16 Hypomethylation of Alpha Satellite Repeats on Chromosome 9 Shank Muscle Mass Decreased Amicable Character Shy Character Inability to Walk Unaided Variable Age at Onset, Mostly in Third Decade Mutation in the FLNC Gene No Dystrophic Changes No Rods Muscle Biopsy Shows Variation in Fiber Size Muscle Atrophy and Fatty Replacement Progression to Proximal Muscle Weakness Inability to Jump or Squat Decreased Ability to Run Weakness of Hip Flexors Hand Grip Strength Decreased Sparing of the Anterior Tibial Compartment Onset between Age 4 to 7 Months Activity of Cytosolic Acetoacetyl CoA Thiolase Decreased Urine Ketones Increased Ataxic Movements Mutation in the TMEM70 Gene Thin Flat Upper Lip Respiratory Chain Complex V Activity Decreased Intention Tremor in Those Who Survive Ataxia in Those who Survive Episodic Encephalopathy Associated with Febrile Illnesses Atrial Fibrillation Provoked by Adrenergic Stimulation Sweat Electrolytes Normal One Patient with a Homozygous Mutation Has Been Reported Mutation in the TUBB3 Gene Misorientation of Pyramidal Fibers Fusion of the Basal Ganglia Dysmorphic Basal Ganglia Dysplastic Cerebellar Vermis Gyral Simplification Gyral Disorganization Perisylvian Polymicrogyria Frontoparietal Polymicrogyria Complex Cortical Dysgenesis Defect in Axonal Guidance Caused by Mutation in the GATA-Binding Protein 2 Gene Generalized Warts Long Tapering Fingers Epicanthic Folds Profound Congenital Sensorineural Deafness Leukotriene C4 Synthetase Deficiency Elliptocytosis Mild Tricuspid Valve Regurgitation Right Ventriculomegaly Left Atrial Enlargement Left Ventriculomegaly Intraventricular Conduction Delay Paroxysmal Atrial Flutter Onset at Early Age Associated with Sudden Death in Childhood Borderline Prolonged QT Interval Profound Microcephaly Numbers of Neurons Reduced Abnormal Cortical Layering Thin Cerebral Cortex Small, Shrunken Brain Patients Become Wheelchair-Bound in Second Decade Onset of Myoclonus Later in Childhood Onset of Ataxia between 1 and 3 Years of Age EEG Shows Photosensitivity Active Generalized Spikes and Polyspikes Variable Tremor Mutation in the DNAL1 Gene Chronic Pulmonary Insufficiency Absence of Outer Dynein Arms Immotile or Weakly Motile Cilia Defective Platelet Aggregation in Response to Arachidonic Acid Fasting Glucose Decreased 25-OH-Vitamin D Decreased Leptin Level Very Low Mobility Restriction of Hands and Fingers Mobility of Elbows and Knees Restricted Widely Open Cranial Sutures Restricted Opening of Mouth Phenotypic Overlap with Revesz Syndrome Short Fine Hair Reticular Pigmentation Pattern Blockage of the Lacrimal Ducts Autosomal Recessive Inheritance: More Severe Phenotype Age at Onset: Childhood to Adulthood Highly Variable Phenotype and Severity - Even within Families Gray Forelock Hyperkeratosis of the Palms