FOXP1
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 63.6% | 21/33 |
| Female | 36.4% | 12/33 |
| Indifferent | 0% | 0/33 |
| Unknown | 0% | 0/33 |
| General | ||
| Birth Length abnormalities | 3.0% | 1/33 |
| < P3 : Birth length less than 3rd percentile | 3.0% | 1/33 |
| Birth Weight abnormalities | 6.1% | 2/33 |
| < P3 : Small for gestational age | 6.1% | 2/33 |
| Birth Head circumference abnormalities | 3.0% | 1/33 |
| > P98 : Macrocephaly at birth | 3.0% | 1/33 |
| Current Height abnormalities | 27.3% | 9/33 |
| < P3 : Short stature | 27.3% | 9/33 |
| Current Weight abnormalities | 18.2% | 6/33 |
| < P3 : Decreased body weight | 18.2% | 6/33 |
| Current Head circumference abnormalities | 27.3% | 9/33 |
| > P98 : Macrocephaly | 24.2% | 8/33 |
| < P3 : Microcephaly | 3.0% | 1/33 |
| Neurology | ||
| Neurological abnormalities | 76.7% | 23/30 |
| Muscular hypotonia | 50.0% | 15/30 |
| Flexion contracture | 23.3% | 7/30 |
| Spasticity | 23.3% | 7/30 |
| Hypertonia | 16.7% | 5/30 |
| Seizures | 10.0% | 3/30 |
| Dysarthria | 6.7% | 2/30 |
| Gait disturbance | 6.7% | 2/30 |
| Gait imbalance | 6.7% | 2/30 |
| Hyperreflexia | 6.7% | 2/30 |
| Abnormality of movement | 3.3% | 1/30 |
| Broad-based gait | 3.3% | 1/30 |
| Central hypotonia | 3.3% | 1/30 |
| Cerebral palsy | 3.3% | 1/30 |
| Clumsiness | 3.3% | 1/30 |
| Delayed gross motor development | 3.3% | 1/30 |
| Hyporeflexia | 3.3% | 1/30 |
| Language impairment | 3.3% | 1/30 |
| Muscle stiffness | 3.3% | 1/30 |
| Neurodevelopmental delay | 3.3% | 1/30 |
| Spina bifida occulta | 3.3% | 1/30 |
| Visual hallucinations | 3.3% | 1/30 |
| Behavioral problems | 97.0% | 32/33 |
| Autistic behavior | 48.5% | 16/33 |
| Behavioral abnormality | 42.4% | 14/33 |
| Speech articulation difficulties | 36.4% | 12/33 |
| Absent speech | 27.3% | 9/33 |
| Oromotor apraxia | 27.3% | 9/33 |
| Obsessive-compulsive behavior | 12.1% | 4/33 |
| Stereotypic behavior | 12.1% | 4/33 |
| Aggressive behavior | 9.1% | 3/33 |
| Attention deficit hyperactivity disorder | 9.1% | 3/33 |
| Anxiety | 6.1% | 2/33 |
| Short attention span | 6.1% | 2/33 |
| Abnormal pattern of respiration | 3.0% | 1/33 |
| Autism | 3.0% | 1/33 |
| Borderline personality disorder | 3.0% | 1/33 |
| Echolalia | 3.0% | 1/33 |
| Hyperacusis | 3.0% | 1/33 |
| Impaired social interactions | 3.0% | 1/33 |
| Impulsivity | 3.0% | 1/33 |
| Inflexible adherence to routines or rituals | 3.0% | 1/33 |
| Perseveration | 3.0% | 1/33 |
| Poor eye contact | 3.0% | 1/33 |
| Repetitive compulsive behavior | 3.0% | 1/33 |
| Restrictive behavior | 3.0% | 1/33 |
| Self-biting | 3.0% | 1/33 |
| Sleep disturbance | 3.0% | 1/33 |
| Brain abnormality | 63.0% | 17/27 |
| Hypoplasia of the corpus callosum | 11.1% | 3/27 |
| Abnormality of the cerebral white matter | 3.7% | 1/27 |
| Abnormality of the cerebral ventricles | 3.7% | 1/27 |
| Arachnoid cyst | 3.7% | 1/27 |
| Cerebral atrophy | 3.7% | 1/27 |
| Cerebral venous angioma | 3.7% | 1/27 |
| Dilation of lateral ventricles | 3.7% | 1/27 |
| Enlarged cisterna magna | 3.7% | 1/27 |
| Periventricular leukomalacia | 3.7% | 1/27 |
| Widened subarachnoid space | 3.7% | 1/27 |
| Facial abnormalities | ||
| Abnormality of the ear | 34.4% | 11/32 |
| Abnormality of the helix | 12.5% | 4/32 |
| Low-set ears | 6.3% | 2/32 |
| Large earlobe | 3.1% | 1/32 |
| Overfolding of the superior helices | 3.1% | 1/32 |
| Periauricular skin pits | 3.1% | 1/32 |
| Preauricular pit | 3.1% | 1/32 |
| Small earlobe | 3.1% | 1/32 |
| Abnormality of the eye | 87.5% | 28/32 |
| Downslanted palpebral fissures | 56.3% | 18/32 |
| Ptosis | 53.1% | 17/32 |
| Hypertelorism | 43.8% | 14/32 |
| Blepharophimosis | 15.6% | 5/32 |
| Epicanthus | 6.3% | 2/32 |
| Short palpebral fissure | 6.3% | 2/32 |
| Almond-shaped palpebral fissure | 3.1% | 1/32 |
| Deeply set eye | 3.1% | 1/32 |
| Microphthalmia | 3.1% | 1/32 |
| Sparse lateral eyebrow | 3.1% | 1/32 |
| Unilateral strabismus | 3.1% | 1/32 |
| Upslanted palpebral fissure | 3.1% | 1/32 |
| Abnormality of the nose | 90.6% | 29/32 |
| Broad nasal tip | 68.8% | 22/32 |
| Short nose | 53.1% | 17/32 |
| Prominent nasolabial fold | 31.3% | 10/32 |
| Wide nasal bridge | 6.3% | 2/32 |
| Anteverted nares | 3.1% | 1/32 |
| Depressed nasal bridge | 3.1% | 1/32 |
| Wide nasal base | 3.1% | 1/32 |
| Abnormality of the mouth | 81.3% | 26/32 |
| Thick vermilion border | 46.9% | 15/32 |
| Wide mouth | 43.8% | 14/32 |
| Downturned corners of mouth | 40.6% | 13/32 |
| Open mouth | 40.6% | 13/32 |
| Mandibular prognathia | 21.9% | 7/32 |
| Dental malocclusion | 9.4% | 3/32 |
| High palate | 6.3% | 2/32 |
| Thin upper lip vermilion | 6.3% | 2/32 |
| Abnormality of the incisor | 3.1% | 1/32 |
| Chin with horizontal crease | 3.1% | 1/32 |
| Everted lower lip vermilion | 3.1% | 1/32 |
| Everted upper lip vermilion | 3.1% | 1/32 |
| Long philtrum | 3.1% | 1/32 |
| Narrow mouth | 3.1% | 1/32 |
| Protruding tongue | 3.1% | 1/32 |
| Retrognathia | 3.1% | 1/32 |
| Smooth philtrum | 3.1% | 1/32 |
| Tented upper lip vermilion | 3.1% | 1/32 |
| Tented philtrum | 3.1% | 1/32 |
| U-Shaped upper lip vermilion | 3.1% | 1/32 |
| Widely-spaced incisors | 3.1% | 1/32 |
| Widely spaced teeth | 3.1% | 1/32 |
| Visual and hearing impairments | ||
| Abnormal vision | 70.0% | 21/30 |
| Strabismus | 56.7% | 17/30 |
| Hypermetropia | 33.3% | 10/30 |
| Nystagmus | 6.7% | 2/30 |
| Amblyopia | 3.3% | 1/30 |
| Duane anomaly | 3.3% | 1/30 |
| Esotropia | 3.3% | 1/30 |
| Optic nerve hypoplasia | 3.3% | 1/30 |
| Pendular nystagmus | 3.3% | 1/30 |
| Heart | ||
| Abnormality of the heart | 30.8% | 8/26 |
| Atria septal defect | 11.5% | 3/26 |
| Secundum atrial septal defect | 7.7% | 2/26 |
| Abnormality of the tricuspid valve | 3.8% | 1/26 |
| Abnormality of the atrial septum | 3.8% | 1/26 |
| Dilatation of the aortic arch | 3.8% | 1/26 |
| Dysplastic tricuspid valve | 3.8% | 1/26 |
| Patent foramen ovale | 3.8% | 1/26 |
| Patent ductus arteriosus | 3.8% | 1/26 |
| Pulmonary | ||
| Abnormality of the lungs | 6.5% | 2/31 |
| Aspiration pneumonia | 3.2% | 1/31 |
| Asthma | 3.2% | 1/31 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 12.5% | 4/32 |
| Anal fistula | 3.1% | 1/32 |
| Biliary tract abnormality | 3.1% | 1/32 |
| Cholestasis | 3.1% | 1/32 |
| Chronic hepatitis | 3.1% | 1/32 |
| Hepatic fibrosis | 3.1% | 1/32 |
| Hypoperistalsis | 3.1% | 1/32 |
| Neonatal cholestatic liver disease | 3.1% | 1/32 |
| Urogenital | ||
| Abnormality of the urogenital system | 37.9% | 11/29 |
| Bilateral cryptorchidism | 13.8% | 4/29 |
| Cryptorchidism | 10.3% | 3/29 |
| Abnormal renal morphology | 6.9% | 2/29 |
| Unilateral cryptorchidism | 6.9% | 2/29 |
| Abnormality of the urinary system | 3.4% | 1/29 |
| Renal duplication | 3.4% | 1/29 |
| Scrotal hypoplasia | 3.4% | 1/29 |
| Ureterocele | 3.4% | 1/29 |
| Urinary incontinence | 3.4% | 1/29 |
| Skeleton | ||
| Skeletal abnormalities | 36.4% | 12/33 |
| Clinodactyly | 18.2% | 6/33 |
| Camptodactyly | 6.1% | 2/33 |
| Knee flexion contracture | 6.1% | 2/33 |
| Overlapping fingers | 6.1% | 2/33 |
| Adducted thumb | 3.0% | 1/33 |
| Congenital contracture | 3.0% | 1/33 |
| Congenital hip dislocation | 3.0% | 1/33 |
| Elbow flexion contracture | 3.0% | 1/33 |
| Excessive femoral anteversion | 3.0% | 1/33 |
| Flexion contracture | 3.0% | 1/33 |
| Hand clenching | 3.0% | 1/33 |
| Joint hypermobility | 3.0% | 1/33 |
| Limited knee extension | 3.0% | 1/33 |
| Limitation of movement at ankles | 3.0% | 1/33 |
| Limited elbow extension | 3.0% | 1/33 |
| Metatarsus adductus | 3.0% | 1/33 |
| Scoliosis | 3.0% | 1/33 |
| Small hand | 3.0% | 1/33 |
| Syndactyly | 3.0% | 1/33 |
| Talipes cavus equinovarus | 3.0% | 1/33 |
| Talipes equinovarus | 3.0% | 1/33 |
| Toe clinodactyly | 3.0% | 1/33 |
| Ulnar deviation of the hand | 3.0% | 1/33 |
| Ulnar deviation of the hand or of fingers of the hand | 3.0% | 1/33 |
| Valgus foot deformity | 3.0% | 1/33 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 63.6% | 21/33 |
| Frontal upsweep of hair | 33.3% | 11/33 |
| Single transverse palmar crease | 27.3% | 9/33 |
| Prominent fingertip pads | 12.1% | 4/33 |
| Sacral dimple | 6.1% | 2/33 |
| Facial hemangioma | 3.0% | 1/33 |
| Hemangioma | 3.0% | 1/33 |
| Localized skin lesion | 3.0% | 1/33 |
| Nail dystrophy | 3.0% | 1/33 |
| Wide intermamillary distance | 3.0% | 1/33 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 3.1% | 1/32 |
| Hypothyroidism | 3.1% | 1/32 |
| Abnormality of the metabolic system | 3.1% | 1/32 |
| Hyperbilirubinemia | 3.1% | 1/32 |
| Abnormality of the immune system | 18.8% | 6/32 |
| Abnormality of immune system physiology | 3.1% | 1/32 |
| Fever | 3.1% | 1/32 |
| Meningitis | 3.1% | 1/32 |
| Recurrent skin infections | 3.1% | 1/32 |
| Recurrent urinary tract infections | 3.1% | 1/32 |
| Recurrent otitis media | 3.1% | 1/32 |
| Recurrent upper respiratory tract infections | 3.1% | 1/32 |
| Recurrent infections | 3.1% | 1/32 |