CYFIP2
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 66.7% | 16/24 |
| Female | 33.3% | 8/24 |
| Indifferent | 0% | 0/24 |
| Unknown | 0% | 0/24 |
| General | ||
| Birth Length abnormalities | 4.2% | 1/24 |
| < P3 : Birth length less than 3rd percentile | 4.2% | 1/24 |
| Birth Weight abnormalities | 4.2% | 1/24 |
| < P3 : Small for gestational age | 4.2% | 1/24 |
| Birth Head circumference abnormalities | 4.2% | 1/24 |
| < P3 : Congenital microcephaly | 4.2% | 1/24 |
| Current Height abnormalities | 16.7% | 4/24 |
| < P3 : Short stature | 16.7% | 4/24 |
| Current Weight abnormalities | 20.8% | 5/24 |
| < P3 : Decreased body weight | 20.8% | 5/24 |
| Current Head circumference abnormalities | 37.5% | 9/24 |
| < P3 : Microcephaly | 37.5% | 9/24 |
| Neurology | ||
| Neurological abnormalities | 95.8% | 23/24 |
| Muscular hypotonia of the trunk | 50.0% | 12/24 |
| Epileptic encephalopathy | 41.7% | 10/24 |
| Epileptic spasms | 29.2% | 7/24 |
| Generalized tonic-clonic seizures | 29.2% | 7/24 |
| Generalized hypotonia | 25.0% | 6/24 |
| Generalized tonic seizures | 25.0% | 6/24 |
| Hypsarrhythmia | 25.0% | 6/24 |
| Lower limb spasticity | 25.0% | 6/24 |
| Absence seizures | 20.8% | 5/24 |
| Atypical absence seizures | 16.7% | 4/24 |
| EEG abnormality | 16.7% | 4/24 |
| Multifocal epileptiform discharges | 16.7% | 4/24 |
| Upper limb spasticity | 16.7% | 4/24 |
| EEG with generalized slow activity | 12.5% | 3/24 |
| Myoclonus | 12.5% | 3/24 |
| Status epilepticus | 12.5% | 3/24 |
| Dystonia | 8.3% | 2/24 |
| EEG with spike-wave complexes | 8.3% | 2/24 |
| Epileptiform EEG discharges | 8.3% | 2/24 |
| Febrile seizures | 8.3% | 2/24 |
| Focal seizures with impairment of consciousness or awareness | 8.3% | 2/24 |
| Generalized clonic seizures | 8.3% | 2/24 |
| Abnormality of eye movement | 4.2% | 1/24 |
| Abnormality of movement | 4.2% | 1/24 |
| Atonic seizures | 4.2% | 1/24 |
| Dyskinesia | 4.2% | 1/24 |
| EEG with irregular generalized spike and wave complexes | 4.2% | 1/24 |
| EEG with focal epileptiform discharges | 4.2% | 1/24 |
| EEG with focal sharp slow waves | 4.2% | 1/24 |
| EEG with intermittent slow activity | 4.2% | 1/24 |
| EEG with generalized epileptiform discharges | 4.2% | 1/24 |
| EEG with generalized spikes | 4.2% | 1/24 |
| EEG with burst suppression | 4.2% | 1/24 |
| EEG with generalized sharp slow waves | 4.2% | 1/24 |
| EEG with temporal sharp slow waves | 4.2% | 1/24 |
| EEG with spike-wave complexes (<2.5 Hz) | 4.2% | 1/24 |
| Encephalopathy | 4.2% | 1/24 |
| Eyelid myoclonias | 4.2% | 1/24 |
| Focal myoclonic seizures | 4.2% | 1/24 |
| Focal seizures without impairment of consciousness or awareness | 4.2% | 1/24 |
| Gelastic seizures | 4.2% | 1/24 |
| Generalized myoclonic seizures | 4.2% | 1/24 |
| Hemihypsarrhythmia | 4.2% | 1/24 |
| Hyporeflexia | 4.2% | 1/24 |
| Muscle weakness | 4.2% | 1/24 |
| Muscular hypotonia | 4.2% | 1/24 |
| Progressive microcephaly | 4.2% | 1/24 |
| Severe muscular hypotonia | 4.2% | 1/24 |
| Behavioral problems | 75.0% | 18/24 |
| Sleep disturbance | 41.7% | 10/24 |
| Stereotypic behavior | 20.8% | 5/24 |
| Paroxysmal bursts of laughter | 16.7% | 4/24 |
| Aggressive behavior | 12.5% | 3/24 |
| Autistic behavior | 12.5% | 3/24 |
| Self-injurious behavior | 12.5% | 3/24 |
| Attention deficit hyperactivity disorder | 8.3% | 2/24 |
| Abnormal aggressive, impulsive or violent behavior | 4.2% | 1/24 |
| Anxiety | 4.2% | 1/24 |
| Behavioral abnormality | 4.2% | 1/24 |
| Echolalia | 4.2% | 1/24 |
| Excessive daytime sleepiness | 4.2% | 1/24 |
| Hyperactivity | 4.2% | 1/24 |
| Hyperorality | 4.2% | 1/24 |
| Insomnia | 4.2% | 1/24 |
| Shyness | 4.2% | 1/24 |
| Sleep-wake cycle disturbance | 4.2% | 1/24 |
| Stereotypical body rocking | 4.2% | 1/24 |
| Brain abnormality | 56.5% | 13/23 |
| Cerebral atrophy | 13.0% | 3/23 |
| Focal T2 hyperintense basal ganglia lesion | 13.0% | 3/23 |
| Hypoplasia of the frontal lobes | 8.7% | 2/23 |
| Widened subarachnoid space | 8.7% | 2/23 |
| Abnormality of the cerebral cortex | 4.3% | 1/23 |
| Cerebral white matter atrophy | 4.3% | 1/23 |
| Cerebral hypomyelination | 4.3% | 1/23 |
| Cerebellar atrophy | 4.3% | 1/23 |
| Cortical gyral simplification | 4.3% | 1/23 |
| Diffuse cerebral atrophy | 4.3% | 1/23 |
| Focal T2 hyperintense brainstem lesion | 4.3% | 1/23 |
| Focal T2 hyperintense thalamic lesion | 4.3% | 1/23 |
| Frontal cortical atrophy | 4.3% | 1/23 |
| Frontotemporal cerebral atrophy | 4.3% | 1/23 |
| Hypoplasia of the corpus callosum | 4.3% | 1/23 |
| Perivascular spaces | 4.3% | 1/23 |
| Periventricular leukomalacia | 4.3% | 1/23 |
| Prominent metopic ridge | 4.3% | 1/23 |
| Temporal cortical atrophy | 4.3% | 1/23 |
| Facial abnormalities | ||
| Abnormality of the ear | 52.2% | 12/23 |
| Large earlobe | 30.4% | 7/23 |
| Posteriorly rotated ears | 13.0% | 3/23 |
| Long ear | 4.3% | 1/23 |
| Low-set ears | 4.3% | 1/23 |
| Low-set, posteriorly rotated ears | 4.3% | 1/23 |
| Overfolded helix | 4.3% | 1/23 |
| Abnormality of the eye | 65.2% | 15/23 |
| Hypertelorism | 26.1% | 6/23 |
| Deeply set eye | 21.7% | 5/23 |
| Upslanted palpebral fissure | 17.4% | 4/23 |
| Downslanted palpebral fissures | 13.0% | 3/23 |
| Highly arched eyebrow | 8.7% | 2/23 |
| Long eyelashes | 8.7% | 2/23 |
| Periorbital fullness | 8.7% | 2/23 |
| Sparse eyebrow | 8.7% | 2/23 |
| Almond-shaped palpebral fissure | 4.3% | 1/23 |
| Epicanthus | 4.3% | 1/23 |
| Medial flaring of the eyebrow | 4.3% | 1/23 |
| Ptosis | 4.3% | 1/23 |
| Small palpebral fissure | 4.3% | 1/23 |
| Abnormality of the nose | 30.4% | 7/23 |
| Bulbous nose | 13.0% | 3/23 |
| Depressed nasal bridge | 8.7% | 2/23 |
| Broad columella | 4.3% | 1/23 |
| Broad nasal tip | 4.3% | 1/23 |
| Large beaked nose | 4.3% | 1/23 |
| Narrow nasal ridge | 4.3% | 1/23 |
| Abnormality of the mouth | 60.9% | 14/23 |
| Thick lower lip vermilion | 21.7% | 5/23 |
| Thick upper lip vermilion | 21.7% | 5/23 |
| Open mouth | 13.0% | 3/23 |
| Thin upper lip vermilion | 13.0% | 3/23 |
| Widely spaced teeth | 13.0% | 3/23 |
| Diastema | 8.7% | 2/23 |
| Everted lower lip vermilion | 8.7% | 2/23 |
| High, narrow palate | 8.7% | 2/23 |
| Microdontia | 8.7% | 2/23 |
| Narrow mouth | 8.7% | 2/23 |
| Wide mouth | 8.7% | 2/23 |
| Gingival overgrowth | 4.3% | 1/23 |
| Misalignment of teeth | 4.3% | 1/23 |
| Protruding ear | 4.3% | 1/23 |
| Visual and hearing impairments | ||
| Abnormal hearing | 4.5% | 1/22 |
| Absence of acoustic reflex | 4.5% | 1/22 |
| Abnormal vision | 60.9% | 14/23 |
| Hypermetropia | 21.7% | 5/23 |
| Strabismus | 21.7% | 5/23 |
| Cortical visual impairment | 13.0% | 3/23 |
| Exotropia | 8.7% | 2/23 |
| Optic atrophy | 8.7% | 2/23 |
| Abnormality of the retina | 4.3% | 1/23 |
| Astigmatism | 4.3% | 1/23 |
| Myopia | 4.3% | 1/23 |
| Optic nerve hypoplasia | 4.3% | 1/23 |
| Visual impairment | 4.3% | 1/23 |
| Heart | ||
| Abnormality of the heart | 16.7% | 4/24 |
| Arrhythmia | 4.2% | 1/24 |
| Atria septal defect | 4.2% | 1/24 |
| Patent foramen ovale | 4.2% | 1/24 |
| Secundum atrial septal defect | 4.2% | 1/24 |
| Sinus bradycardia | 4.2% | 1/24 |
| Pulmonary | ||
| Abnormality of the lungs | 25.0% | 6/24 |
| Recurrent respiratory infections | 16.7% | 4/24 |
| Asthma | 8.3% | 2/24 |
| Cough | 4.2% | 1/24 |
| Laryngomalacia | 4.2% | 1/24 |
| Laryngeal cleft | 4.2% | 1/24 |
| Obstructive sleep apnea | 4.2% | 1/24 |
| Stridor | 4.2% | 1/24 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 75.0% | 18/24 |
| Dysphagia | 29.2% | 7/24 |
| Gastrostomy tube feeding in infancy | 29.2% | 7/24 |
| Chewing difficulties | 16.7% | 4/24 |
| Constipation | 12.5% | 3/24 |
| Poor suck | 12.5% | 3/24 |
| Gastroesophageal reflux | 8.3% | 2/24 |
| Excessive salivation | 4.2% | 1/24 |
| Failure to thrive | 4.2% | 1/24 |
| Nasogastric tube feeding in infancy | 4.2% | 1/24 |
| Urogenital | ||
| Abnormality of the urogenital system | 25.0% | 6/24 |
| Cryptorchidism | 8.3% | 2/24 |
| Aplasia/Hypoplasia of the bladder | 4.2% | 1/24 |
| Nephrolithiasis | 4.2% | 1/24 |
| Recurrent urinary tract infections | 4.2% | 1/24 |
| Vesicoureteral reflux | 4.2% | 1/24 |
| Skeleton | ||
| Skeletal abnormalities | 66.7% | 16/24 |
| Tapered finger | 16.7% | 4/24 |
| Joint hypermobility | 12.5% | 3/24 |
| Genu varum | 8.3% | 2/24 |
| Long fingers | 8.3% | 2/24 |
| Osteopenia | 8.3% | 2/24 |
| Overlapping toe | 8.3% | 2/24 |
| Pectus excavatum | 8.3% | 2/24 |
| Pes planus | 8.3% | 2/24 |
| Plagiocephaly | 8.3% | 2/24 |
| Scoliosis | 8.3% | 2/24 |
| Brachycephaly | 4.2% | 1/24 |
| Broad toe | 4.2% | 1/24 |
| Broad distal phalanx of finger | 4.2% | 1/24 |
| Clinodactyly of the 5th finger | 4.2% | 1/24 |
| Elbow flexion contracture | 4.2% | 1/24 |
| Flat occiput | 4.2% | 1/24 |
| Hip Subluxation | 4.2% | 1/24 |
| Long toe | 4.2% | 1/24 |
| Marked delay in bone age | 4.2% | 1/24 |
| Narrow foot | 4.2% | 1/24 |
| Recurrent fractures | 4.2% | 1/24 |
| Thoracolumbar scoliosis | 4.2% | 1/24 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 25.0% | 6/24 |
| Abnormality of skin pigmentation | 4.2% | 1/24 |
| Cafe-au-lait spot | 4.2% | 1/24 |
| Delayed eruption of teeth | 4.2% | 1/24 |
| Fragile nails | 4.2% | 1/24 |
| Freckling | 4.2% | 1/24 |
| Low posterior hairline | 4.2% | 1/24 |
| Slow-growing hair | 4.2% | 1/24 |
| Sparse scalp hair | 4.2% | 1/24 |
| Striae distensae | 4.2% | 1/24 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 4.2% | 1/24 |
| Vitamin D deficiency | 4.2% | 1/24 |
| Abnormality of the metabolic system | 8.3% | 2/24 |
| Abnormality of the cerebrospinal fluid | 4.2% | 1/24 |
| Decreased CSF homovanillic acid (HVA) | 4.2% | 1/24 |
| Hyperammonemia | 4.2% | 1/24 |
| Hypertyrosinemia | 4.2% | 1/24 |
| Abnormality of the immune system | 16.7% | 4/24 |
| Neutropenia | 12.5% | 3/24 |
| Recurrent otitis media | 4.2% | 1/24 |