GNAI1
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 58.6% | 17/29 |
| Female | 41.4% | 12/29 |
| Indifferent | 0% | 0/29 |
| Unknown | 0% | 0/29 |
| General | ||
| Birth Length abnormalities | 6.9% | 2/29 |
| < P3 : Birth length less than 3rd percentile | 6.9% | 2/29 |
| Birth Weight abnormalities | 10.3% | 3/29 |
| < P3 : Small for gestational age | 10.3% | 3/29 |
| Birth Head circumference abnormalities | 0% | 0/29 |
| Current Height abnormalities | 3.4% | 1/29 |
| < P3 : Short stature | 3.4% | 1/29 |
| Current Weight abnormalities | 0% | 0/29 |
| Current Head circumference abnormalities | 0% | 0/29 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 29/29 |
| Hypotonia | 75.9% | 22/29 |
| Global developmental delay | 55.2% | 16/29 |
| Absent speech | 31.0% | 9/29 |
| Autism | 27.6% | 8/29 |
| Bilateral tonic-clonic seizure | 20.7% | 6/29 |
| Generalized non-motor (absence) seizure | 13.8% | 4/29 |
| Cerebral palsy | 6.9% | 2/29 |
| Clumsiness | 6.9% | 2/29 |
| EEG with focal sharp waves | 6.9% | 2/29 |
| Expressive language delay | 6.9% | 2/29 |
| Language impairment | 6.9% | 2/29 |
| Delayed fine motor development | 3.4% | 1/29 |
| EEG with irregular generalized spike and wave complexes | 3.4% | 1/29 |
| EEG with central focal spike waves | 3.4% | 1/29 |
| EEG with intermittent slow activity | 3.4% | 1/29 |
| EEG with burst suppression | 3.4% | 1/29 |
| EEG with generalized polymorphic epileptiform discharges | 3.4% | 1/29 |
| EEG with generalized epileptiform discharges | 3.4% | 1/29 |
| EEG with frontal focal spike waves | 3.4% | 1/29 |
| Febrile seizure (within the age range of 3 months to 6 years) | 3.4% | 1/29 |
| Focal-onset seizure | 3.4% | 1/29 |
| Focal tonic seizure | 3.4% | 1/29 |
| Focal myoclonic seizure | 3.4% | 1/29 |
| Generalized tonic seizure | 3.4% | 1/29 |
| Generalized-onset seizure | 3.4% | 1/29 |
| Hypertonia | 3.4% | 1/29 |
| Hypsarrhythmia | 3.4% | 1/29 |
| Infantile spasms | 3.4% | 1/29 |
| Interictal epileptiform activity | 3.4% | 1/29 |
| Polyphagia | 3.4% | 1/29 |
| Profound global developmental delay | 3.4% | 1/29 |
| Seizure | 3.4% | 1/29 |
| Severe global developmental delay | 3.4% | 1/29 |
| Sleep disturbance | 3.4% | 1/29 |
| Spastic tetraparesis | 3.4% | 1/29 |
| Speech apraxia | 3.4% | 1/29 |
| Speech articulation difficulties | 3.4% | 1/29 |
| Behavioral problems | 82.6% | 19/23 |
| Anxiety | 13.0% | 3/23 |
| Atypical behavior | 13.0% | 3/23 |
| Recurrent hand flapping | 13.0% | 3/23 |
| Aggressive behavior | 8.7% | 2/23 |
| Attention deficit hyperactivity disorder | 8.7% | 2/23 |
| Autistic behavior | 8.7% | 2/23 |
| Bruxism | 8.7% | 2/23 |
| Motor stereotypy | 8.7% | 2/23 |
| Reduced eye contact | 8.7% | 2/23 |
| Agitation | 4.3% | 1/23 |
| Excessive shyness | 4.3% | 1/23 |
| Feeding difficulties | 4.3% | 1/23 |
| Hyperactivity | 4.3% | 1/23 |
| Impulsivity | 4.3% | 1/23 |
| Inappropriate crying | 4.3% | 1/23 |
| obsolete Abnormal aggressive, impulsive or violent behavior | 4.3% | 1/23 |
| Tics | 4.3% | 1/23 |
| Brain abnormality | 41.7% | 10/24 |
| Enlarged sylvian cistern | 12.5% | 3/24 |
| Frontal cortical atrophy | 12.5% | 3/24 |
| Temporal cortical atrophy | 12.5% | 3/24 |
| Delayed myelination | 8.3% | 2/24 |
| Global brain atrophy | 8.3% | 2/24 |
| Arachnoid cyst | 4.2% | 1/24 |
| Brain atrophy | 4.2% | 1/24 |
| Cerebral atrophy | 4.2% | 1/24 |
| Choroid plexus cyst | 4.2% | 1/24 |
| Cortical dysplasia | 4.2% | 1/24 |
| Delayed CNS myelination | 4.2% | 1/24 |
| Gliosis | 4.2% | 1/24 |
| Lateral ventricle dilatation | 4.2% | 1/24 |
| Facial abnormalities | ||
| Abnormality of the ear | 33.3% | 8/24 |
| Large earlobe | 8.3% | 2/24 |
| Macrotia | 8.3% | 2/24 |
| Hypoplastic helices | 4.2% | 1/24 |
| Long hallux | 4.2% | 1/24 |
| Microtia | 4.2% | 1/24 |
| Thickened helices | 4.2% | 1/24 |
| Uplifted earlobe | 4.2% | 1/24 |
| Abnormality of the eye | 62.5% | 15/24 |
| Strabismus | 20.8% | 5/24 |
| Deeply set eye | 8.3% | 2/24 |
| Epicanthus | 8.3% | 2/24 |
| Hypertelorism | 8.3% | 2/24 |
| Abnormal eyelid morphology | 4.2% | 1/24 |
| Astigmatism | 4.2% | 1/24 |
| Central heterochromia | 4.2% | 1/24 |
| Downslanted palpebral fissures | 4.2% | 1/24 |
| Eversion of lateral third of lower eyelids | 4.2% | 1/24 |
| Long palpebral fissure | 4.2% | 1/24 |
| Short palpebral fissure | 4.2% | 1/24 |
| Upslanted palpebral fissure | 4.2% | 1/24 |
| Abnormality of the nose | 50.0% | 11/22 |
| Anteverted nares | 27.3% | 6/22 |
| Short nose | 13.6% | 3/22 |
| Wide nasal base | 9.1% | 2/22 |
| Bulbous nose | 4.5% | 1/22 |
| Wide nose | 4.5% | 1/22 |
| Abnormality of the mouth | 60.0% | 15/25 |
| Short philtrum | 20.0% | 5/25 |
| Tented upper lip vermilion | 16.0% | 4/25 |
| Thin upper lip vermilion | 16.0% | 4/25 |
| Diastema | 4.0% | 1/25 |
| High palate | 4.0% | 1/25 |
| Hypoplasia of the maxilla | 4.0% | 1/25 |
| Microdontia | 4.0% | 1/25 |
| Narrow mouth | 4.0% | 1/25 |
| Open mouth | 4.0% | 1/25 |
| Short upper lip | 4.0% | 1/25 |
| Thick lower lip vermilion | 4.0% | 1/25 |
| Thick vermilion border | 4.0% | 1/25 |
| Widely spaced teeth | 4.0% | 1/25 |
| Wide mouth | 4.0% | 1/25 |
| Visual and hearing impairments | ||
| Abnormal hearing | 100.0% | 1/1 |
| Glue ear | 100.0% | 1/1 |
| Abnormal vision | 100.0% | 5/5 |
| Hypermetropia | 60.0% | 3/5 |
| Astigmatism | 20.0% | 1/5 |
| Cerebral visual impairment | 20.0% | 1/5 |
| Heart | ||
| Abnormality of the heart | 100.0% | 3/3 |
| Tricuspid regurgitation | 100.0% | 3/3 |
| Pulmonary | ||
| Abnormality of the lungs | 100.0% | 4/4 |
| Asthma | 100.0% | 4/4 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 100.0% | 4/4 |
| Constipation | 50.0% | 2/4 |
| Gastrostomy tube feeding in infancy | 25.0% | 1/4 |
| Inguinal hernia | 25.0% | 1/4 |
| Urogenital | ||
| Abnormality of the urogenital system | 100.0% | 3/3 |
| Cryptorchidism | 33.3% | 1/3 |
| Rectovaginal fistula | 33.3% | 1/3 |
| Retractile testis | 33.3% | 1/3 |
| Skeleton | ||
| Skeletal abnormalities | 95.2% | 20/21 |
| Tapered finger | 47.6% | 10/21 |
| Hip dysplasia | 23.8% | 5/21 |
| Long hallux | 23.8% | 5/21 |
| Marked delay in bone age | 19.0% | 4/21 |
| Short foot | 19.0% | 4/21 |
| Kyphoscoliosis | 14.3% | 3/21 |
| Pes planus | 14.3% | 3/21 |
| Small hand | 14.3% | 3/21 |
| Clinodactyly of the 5th toe | 9.5% | 2/21 |
| Long fingers | 9.5% | 2/21 |
| Scoliosis | 9.5% | 2/21 |
| Abnormal 4th metacarpal epiphysis morphology | 4.8% | 1/21 |
| Bilateral talipes equinovarus | 4.8% | 1/21 |
| Broad foot | 4.8% | 1/21 |
| Camptodactyly of toe | 4.8% | 1/21 |
| Clinodactyly of the 3rd toe | 4.8% | 1/21 |
| Clinodactyly of the 5th finger | 4.8% | 1/21 |
| Clinodactyly of the 4th toe | 4.8% | 1/21 |
| Finger symphalangism | 4.8% | 1/21 |
| Foot dorsiflexor weakness | 4.8% | 1/21 |
| Hip dislocation | 4.8% | 1/21 |
| Joint hypermobility | 4.8% | 1/21 |
| obsolete Joint laxity | 4.8% | 1/21 |
| Short finger | 4.8% | 1/21 |
| Short digit | 4.8% | 1/21 |
| Slender finger | 4.8% | 1/21 |
| Tapered toe | 4.8% | 1/21 |
| Unilateral brachydactyly | 4.8% | 1/21 |
| 1-2 toe syndactyly | 4.8% | 1/21 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 100.0% | 15/15 |
| Abnormal number of hair whorls | 20.0% | 3/15 |
| Broad eyebrow | 20.0% | 3/15 |
| Horizontal eyebrow | 20.0% | 3/15 |
| Prominent fingertip pads | 20.0% | 3/15 |
| Thick eyebrow | 20.0% | 3/15 |
| Low posterior hairline | 13.3% | 2/15 |
| Synophrys | 13.3% | 2/15 |
| Abnormal hair pattern | 6.7% | 1/15 |
| Frontal upsweep of hair | 6.7% | 1/15 |
| Laterally extended eyebrow | 6.7% | 1/15 |
| obsolete Sparse and thin eyebrow | 6.7% | 1/15 |
| Single transverse palmar crease | 6.7% | 1/15 |
| Thickened nuchal skin fold | 6.7% | 1/15 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 100.0% | 2/2 |
| Decreased response to growth hormone stimulation test | 50.0% | 1/2 |
| Hypothyroidism | 50.0% | 1/2 |
| Abnormality of the immune system | 100.0% | 1/1 |
| Recurrent otitis media | 100.0% | 1/1 |