FOXP1
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 69.2% | 27/39 |
| Female | 30.8% | 12/39 |
| Indifferent | 0% | 0/39 |
| Unknown | 0% | 0/39 |
| General | ||
| Birth Length abnormalities | 2.6% | 1/39 |
| < P3 : Birth length less than 3rd percentile | 2.6% | 1/39 |
| Birth Weight abnormalities | 5.1% | 2/39 |
| < P3 : Small for gestational age | 5.1% | 2/39 |
| Birth Head circumference abnormalities | 2.6% | 1/39 |
| > P98 : Macrocephaly at birth | 2.6% | 1/39 |
| Current Height abnormalities | 30.8% | 12/39 |
| < P3 : Short stature | 30.8% | 12/39 |
| Current Weight abnormalities | 23.1% | 9/39 |
| > P98 : Increased body weight | 2.6% | 1/39 |
| < P3 : Decreased body weight | 20.5% | 8/39 |
| Current Head circumference abnormalities | 25.6% | 10/39 |
| > P98 : Macrocephaly | 20.5% | 8/39 |
| < P3 : Microcephaly | 5.1% | 2/39 |
| Neurology | ||
| Neurological abnormalities | 77.8% | 28/36 |
| Hypotonia | 47.2% | 17/36 |
| Flexion contracture | 27.8% | 10/36 |
| Spasticity | 27.8% | 10/36 |
| Hypertonia | 16.7% | 6/36 |
| Seizure | 8.3% | 3/36 |
| Dysarthria | 5.6% | 2/36 |
| Gait disturbance | 5.6% | 2/36 |
| Gait imbalance | 5.6% | 2/36 |
| Hyperreflexia | 5.6% | 2/36 |
| Abnormality of movement | 2.8% | 1/36 |
| Broad-based gait | 2.8% | 1/36 |
| Cerebral palsy | 2.8% | 1/36 |
| Clumsiness | 2.8% | 1/36 |
| Delayed gross motor development | 2.8% | 1/36 |
| EEG abnormality | 2.8% | 1/36 |
| Hyporeflexia | 2.8% | 1/36 |
| Intellectual disability | 2.8% | 1/36 |
| Language impairment | 2.8% | 1/36 |
| Muscle stiffness | 2.8% | 1/36 |
| Neurodevelopmental delay | 2.8% | 1/36 |
| obsolete Central hypotonia | 2.8% | 1/36 |
| obsolete Poor motor coordination | 2.8% | 1/36 |
| Spina bifida occulta | 2.8% | 1/36 |
| Visual hallucination | 2.8% | 1/36 |
| Behavioral problems | 97.4% | 38/39 |
| Autistic behavior | 43.6% | 17/39 |
| Atypical behavior | 35.9% | 14/39 |
| Speech articulation difficulties | 33.3% | 13/39 |
| Absent speech | 30.8% | 12/39 |
| Oromotor apraxia | 25.6% | 10/39 |
| Aggressive behavior | 12.8% | 5/39 |
| Attention deficit hyperactivity disorder | 10.3% | 4/39 |
| Compulsive behaviors | 10.3% | 4/39 |
| Motor stereotypy | 10.3% | 4/39 |
| Short attention span | 7.7% | 3/39 |
| Anxiety | 5.1% | 2/39 |
| Autism | 5.1% | 2/39 |
| Abnormal pattern of respiration | 2.6% | 1/39 |
| Borderline personality disorder | 2.6% | 1/39 |
| Echolalia | 2.6% | 1/39 |
| Emotional lability | 2.6% | 1/39 |
| Hyperacusis | 2.6% | 1/39 |
| Hyperactivity | 2.6% | 1/39 |
| Impulsivity | 2.6% | 1/39 |
| Inflexible adherence to routines | 2.6% | 1/39 |
| obsolete Impaired social interactions | 2.6% | 1/39 |
| Perseverative thought | 2.6% | 1/39 |
| Pica | 2.6% | 1/39 |
| Reduced eye contact | 2.6% | 1/39 |
| Repetitive compulsive behavior | 2.6% | 1/39 |
| Restrictive behavior | 2.6% | 1/39 |
| Self-biting | 2.6% | 1/39 |
| Self-injurious behavior | 2.6% | 1/39 |
| Sleep disturbance | 2.6% | 1/39 |
| Brain abnormality | 56.3% | 18/32 |
| Hypoplasia of the corpus callosum | 9.4% | 3/32 |
| Abnormal cerebral white matter morphology | 3.1% | 1/32 |
| Abnormal cerebral ventricle morphology | 3.1% | 1/32 |
| Arachnoid cyst | 3.1% | 1/32 |
| Cerebral venous angioma | 3.1% | 1/32 |
| Cerebral atrophy | 3.1% | 1/32 |
| Enlarged cisterna magna | 3.1% | 1/32 |
| Lateral ventricle dilatation | 3.1% | 1/32 |
| Periventricular leukomalacia | 3.1% | 1/32 |
| Widened subarachnoid space | 3.1% | 1/32 |
| Facial abnormalities | ||
| Abnormality of the ear | 34.2% | 13/38 |
| Abnormal helix morphology | 13.2% | 5/38 |
| Low-set ears | 5.3% | 2/38 |
| Small earlobe | 5.3% | 2/38 |
| Large earlobe | 2.6% | 1/38 |
| Overfolding of the superior helices | 2.6% | 1/38 |
| Periauricular skin pits | 2.6% | 1/38 |
| Preauricular pit | 2.6% | 1/38 |
| Abnormality of the eye | 86.8% | 33/38 |
| Downslanted palpebral fissures | 55.3% | 21/38 |
| Ptosis | 52.6% | 20/38 |
| Hypertelorism | 42.1% | 16/38 |
| Blepharophimosis | 15.8% | 6/38 |
| Epicanthus | 5.3% | 2/38 |
| Short palpebral fissure | 5.3% | 2/38 |
| Almond-shaped palpebral fissure | 2.6% | 1/38 |
| Deeply set eye | 2.6% | 1/38 |
| Microphthalmia | 2.6% | 1/38 |
| Monocular strabismus | 2.6% | 1/38 |
| Sparse lateral eyebrow | 2.6% | 1/38 |
| Upslanted palpebral fissure | 2.6% | 1/38 |
| Abnormality of the nose | 86.8% | 33/38 |
| Broad nasal tip | 65.8% | 25/38 |
| Short nose | 52.6% | 20/38 |
| Prominent nasolabial fold | 28.9% | 11/38 |
| Wide nasal bridge | 5.3% | 2/38 |
| Anteverted nares | 2.6% | 1/38 |
| Depressed nasal bridge | 2.6% | 1/38 |
| Wide nasal base | 2.6% | 1/38 |
| Abnormality of the mouth | 78.9% | 30/38 |
| Thick vermilion border | 44.7% | 17/38 |
| Downturned corners of mouth | 39.5% | 15/38 |
| Wide mouth | 39.5% | 15/38 |
| Open mouth | 36.8% | 14/38 |
| Mandibular prognathia | 23.7% | 9/38 |
| Dental malocclusion | 10.5% | 4/38 |
| High palate | 5.3% | 2/38 |
| Thin upper lip vermilion | 5.3% | 2/38 |
| Abnormal dental morphology | 2.6% | 1/38 |
| Abnormality of the incisor | 2.6% | 1/38 |
| Chin with horizontal crease | 2.6% | 1/38 |
| Everted lower lip vermilion | 2.6% | 1/38 |
| Everted upper lip vermilion | 2.6% | 1/38 |
| Long philtrum | 2.6% | 1/38 |
| Narrow mouth | 2.6% | 1/38 |
| Open bite | 2.6% | 1/38 |
| Protruding tongue | 2.6% | 1/38 |
| Retrognathia | 2.6% | 1/38 |
| Smooth philtrum | 2.6% | 1/38 |
| Tented philtrum | 2.6% | 1/38 |
| Tented upper lip vermilion | 2.6% | 1/38 |
| U-Shaped upper lip vermilion | 2.6% | 1/38 |
| Widely spaced teeth | 2.6% | 1/38 |
| Widely-spaced incisors | 2.6% | 1/38 |
| Visual and hearing impairments | ||
| Abnormal hearing | 11.5% | 3/26 |
| Hearing abnormality | 3.8% | 1/26 |
| Hearing impairment | 3.8% | 1/26 |
| Strabismus | 3.8% | 1/26 |
| Abnormal vision | 62.9% | 22/35 |
| Strabismus | 51.4% | 18/35 |
| Hypermetropia | 31.4% | 11/35 |
| Nystagmus | 5.7% | 2/35 |
| Amblyopia | 2.9% | 1/35 |
| Duane anomaly | 2.9% | 1/35 |
| Esotropia | 2.9% | 1/35 |
| Optic nerve hypoplasia | 2.9% | 1/35 |
| Pendular nystagmus | 2.9% | 1/35 |
| Heart | ||
| Abnormality of the heart | 32.3% | 10/31 |
| Secundum atrial septal defect | 12.9% | 4/31 |
| Atrial septal defect | 9.7% | 3/31 |
| Abnormal tricuspid valve morphology | 3.2% | 1/31 |
| Abnormal atrial septum morphology | 3.2% | 1/31 |
| Aortic arch aneurysm | 3.2% | 1/31 |
| Dysplastic tricuspid valve | 3.2% | 1/31 |
| Patent foramen ovale | 3.2% | 1/31 |
| Patent ductus arteriosus | 3.2% | 1/31 |
| Pulmonic stenosis | 3.2% | 1/31 |
| Right ventricular hypertrophy | 3.2% | 1/31 |
| Pulmonary | ||
| Abnormality of the lungs | 5.4% | 2/37 |
| Aspiration pneumonia | 2.7% | 1/37 |
| Asthma | 2.7% | 1/37 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 13.2% | 5/38 |
| Anal fistula | 2.6% | 1/38 |
| Biliary tract abnormality | 2.6% | 1/38 |
| Cholestasis | 2.6% | 1/38 |
| Chronic hepatitis | 2.6% | 1/38 |
| Constipation | 2.6% | 1/38 |
| Hepatic fibrosis | 2.6% | 1/38 |
| Hypoperistalsis | 2.6% | 1/38 |
| Neonatal cholestatic liver disease | 2.6% | 1/38 |
| Urogenital | ||
| Abnormality of the urogenital system | 40.0% | 14/35 |
| Bilateral cryptorchidism | 17.1% | 6/35 |
| Cryptorchidism | 11.4% | 4/35 |
| Abnormal renal morphology | 5.7% | 2/35 |
| Unilateral cryptorchidism | 5.7% | 2/35 |
| Abnormality of the urinary system | 2.9% | 1/35 |
| Congenital absence of foreskin | 2.9% | 1/35 |
| Renal duplication | 2.9% | 1/35 |
| Small scrotum | 2.9% | 1/35 |
| Ureterocele | 2.9% | 1/35 |
| Urinary incontinence | 2.9% | 1/35 |
| Skeleton | ||
| Skeletal abnormalities | 35.9% | 14/39 |
| Clinodactyly | 17.9% | 7/39 |
| Camptodactyly | 5.1% | 2/39 |
| Knee flexion contracture | 5.1% | 2/39 |
| Overlapping fingers | 5.1% | 2/39 |
| Adducted thumb | 2.6% | 1/39 |
| Congenital hip dislocation | 2.6% | 1/39 |
| Congenital contracture | 2.6% | 1/39 |
| Elbow flexion contracture | 2.6% | 1/39 |
| Flexion contracture | 2.6% | 1/39 |
| Hand clenching | 2.6% | 1/39 |
| Hip dysplasia | 2.6% | 1/39 |
| Increased femoral anteversion | 2.6% | 1/39 |
| Joint hypermobility | 2.6% | 1/39 |
| Limitation of movement at ankles | 2.6% | 1/39 |
| Limited knee extension | 2.6% | 1/39 |
| Limited elbow extension | 2.6% | 1/39 |
| Metatarsus adductus | 2.6% | 1/39 |
| Pes planus | 2.6% | 1/39 |
| Pes valgus | 2.6% | 1/39 |
| Scoliosis | 2.6% | 1/39 |
| Small hand | 2.6% | 1/39 |
| Syndactyly | 2.6% | 1/39 |
| Talipes equinovarus | 2.6% | 1/39 |
| Talipes cavus equinovarus | 2.6% | 1/39 |
| Toe clinodactyly | 2.6% | 1/39 |
| Ulnar deviation of the hand or of fingers of the hand | 2.6% | 1/39 |
| Ulnar deviation of the hand | 2.6% | 1/39 |
| 2-3 toe syndactyly | 2.6% | 1/39 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 61.5% | 24/39 |
| Frontal upsweep of hair | 30.8% | 12/39 |
| Single transverse palmar crease | 28.2% | 11/39 |
| Prominent fingertip pads | 10.3% | 4/39 |
| Sacral dimple | 5.1% | 2/39 |
| Facial hemangioma | 2.6% | 1/39 |
| Hemangioma | 2.6% | 1/39 |
| Localized skin lesion | 2.6% | 1/39 |
| Nail dystrophy | 2.6% | 1/39 |
| Wide intermamillary distance | 2.6% | 1/39 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 2.6% | 1/38 |
| Hypothyroidism | 2.6% | 1/38 |
| Abnormality of the metabolic system | 2.6% | 1/38 |
| Hyperbilirubinemia | 2.6% | 1/38 |
| Abnormality of the immune system | 15.8% | 6/38 |
| Abnormality of immune system physiology | 2.6% | 1/38 |
| Fever | 2.6% | 1/38 |
| Meningitis | 2.6% | 1/38 |
| Recurrent urinary tract infections | 2.6% | 1/38 |
| Recurrent infections | 2.6% | 1/38 |
| Recurrent skin infections | 2.6% | 1/38 |
| Recurrent otitis media | 2.6% | 1/38 |
| Recurrent upper respiratory tract infections | 2.6% | 1/38 |