Percentage | Cases | |
---|---|---|
Gender | ||
Male | 54.1% | 20/37 |
Female | 45.9% | 17/37 |
Indifferent | 0% | 0/37 |
Unknown | 0% | 0/37 |
General | ||
Birth Length abnormalities | 0% | 0/36 |
Birth Weight abnormalities | 0% | 0/36 |
Birth Head circumference abnormalities | 2.9% | 1/35 |
< P3 : Congenital microcephaly | 2.9% | 1/35 |
Current Height abnormalities | 8.1% | 3/37 |
> P98 : Tall stature | 8.1% | 3/37 |
Current Weight abnormalities | 5.6% | 2/36 |
> P98 : Increased body weight | 5.6% | 2/36 |
Current Head circumference abnormalities | 11.1% | 4/36 |
> P98 : Macrocephaly | 8.3% | 3/36 |
< P3 : Microcephaly | 2.8% | 1/36 |
Neurology | ||
Neurological abnormalities | 94.4% | 34/36 |
Seizures | 50.0% | 18/36 |
Sleep disturbance | 50.0% | 18/36 |
Poor eye contact | 44.4% | 16/36 |
Muscular hypotonia | 36.1% | 13/36 |
Gait ataxia | 16.7% | 6/36 |
Absence seizures | 8.3% | 3/36 |
Gait disturbance | 8.3% | 3/36 |
Insomnia | 8.3% | 3/36 |
Central hypotonia | 5.6% | 2/36 |
Generalized tonic-clonic seizures | 5.6% | 2/36 |
Bruxism | 2.8% | 1/36 |
Dystonia | 2.8% | 1/36 |
EEG abnormality | 2.8% | 1/36 |
EEG with generalized epileptiform discharges | 2.8% | 1/36 |
Focal seizures | 2.8% | 1/36 |
Generalized hypotonia | 2.8% | 1/36 |
Generalized seizures | 2.8% | 1/36 |
Global developmental delay | 2.8% | 1/36 |
Severe muscular hypotonia | 2.8% | 1/36 |
Status epilepticus | 2.8% | 1/36 |
Tip-toe gait | 2.8% | 1/36 |
Tremor | 2.8% | 1/36 |
Behavioral problems | 94.6% | 35/37 |
Autism | 70.3% | 26/37 |
Mood swings | 54.1% | 20/37 |
Impaired pain sensation | 43.2% | 16/37 |
Aggressive behavior | 32.4% | 12/37 |
Autistic behavior | 8.1% | 3/37 |
Pain insensitivity | 8.1% | 3/37 |
Agitation | 5.4% | 2/37 |
Attention deficit hyperactivity disorder | 5.4% | 2/37 |
Irritability | 5.4% | 2/37 |
Punding | 5.4% | 2/37 |
Self-injurious behavior | 5.4% | 2/37 |
Stereotypic behavior | 5.4% | 2/37 |
Anxiety | 2.7% | 1/37 |
Hyperactivity | 2.7% | 1/37 |
Oppositional defiant disorder | 2.7% | 1/37 |
Polyphagia | 2.7% | 1/37 |
Psychosis | 2.7% | 1/37 |
Brain abnormality | 37.0% | 10/27 |
EEG abnormality | 22.2% | 6/27 |
Abnormal brainstem MRI signal intensity | 3.7% | 1/27 |
Aplasia/Hypoplasia of the corpus callosum | 3.7% | 1/27 |
Aplasia/Hypoplasia of the cerebral white matter | 3.7% | 1/27 |
Cortical dysplasia | 3.7% | 1/27 |
Macrocephaly | 3.7% | 1/27 |
Facial abnormalities | ||
Abnormality of the eye | 21.4% | 6/28 |
Horizontal eyebrow | 10.7% | 3/28 |
Deeply set eye | 3.6% | 1/28 |
Epicanthus | 3.6% | 1/28 |
Hypertelorism | 3.6% | 1/28 |
Upslanted palpebral fissure | 3.6% | 1/28 |
Abnormality of the nose | 20.7% | 6/29 |
Prominent nasal tip | 10.3% | 3/29 |
Broad nasal tip | 3.4% | 1/29 |
Depressed nasal bridge | 3.4% | 1/29 |
Abnormality of the mouth | 31.0% | 9/29 |
Exaggerated cupid's bow | 13.8% | 4/29 |
Thick lower lip vermilion | 13.8% | 4/29 |
Abnormality of mouth shape | 3.4% | 1/29 |
Absent cupid's bow | 3.4% | 1/29 |
Ankyloglossia | 3.4% | 1/29 |
High palate | 3.4% | 1/29 |
Open mouth | 3.4% | 1/29 |
Prominence of the premaxilla | 3.4% | 1/29 |
Visual and hearing impairments | ||
Abnormal hearing | 7.4% | 2/27 |
Hearing impairment | 7.4% | 2/27 |
Abnormal vision | 16.0% | 4/25 |
Strabismus | 12.0% | 3/25 |
Astigmatism | 4.0% | 1/25 |
Heart | ||
Abnormality of the heart | 3.1% | 1/32 |
Pulmonary hypertension | 3.1% | 1/32 |
Secundum atrial septal defect | 3.1% | 1/32 |
Gastrointestinal | ||
Gastrointestinal abnormalities | 64.5% | 20/31 |
Feeding difficulties | 29.0% | 9/31 |
Constipation | 22.6% | 7/31 |
Gastroesophageal reflux | 22.6% | 7/31 |
Cow milk allergy | 9.7% | 3/31 |
Diarrhea | 9.7% | 3/31 |
Intermittent diarrhea | 6.5% | 2/31 |
Chronic constipation | 3.2% | 1/31 |
Chronic diarrhea | 3.2% | 1/31 |
Failure to thrive | 3.2% | 1/31 |
Feeding difficulties in infancy | 3.2% | 1/31 |
Gastrointestinal inflammation | 3.2% | 1/31 |
Urogenital | ||
Abnormality of the urogenital system | 6.5% | 2/31 |
Bilateral cryptorchidism | 3.2% | 1/31 |
Prominent scrotal raphe | 3.2% | 1/31 |
Skeleton | ||
Skeletal abnormalities | 68.8% | 22/32 |
Joint hypermobility | 25.0% | 8/32 |
Prominent fingertip pads | 25.0% | 8/32 |
Abnormality of limbs | 18.8% | 6/32 |
2-3 toe syndactyly | 9.4% | 3/32 |
Kyphoscoliosis | 6.3% | 2/32 |
Sacral dimple | 6.3% | 2/32 |
Large hands | 3.1% | 1/32 |
Pectus excavatum | 3.1% | 1/32 |
Pes planus | 3.1% | 1/32 |
Scoliosis | 3.1% | 1/32 |
Short finger | 3.1% | 1/32 |
Short fourth metatarsal | 3.1% | 1/32 |
Splayed toes | 3.1% | 1/32 |
2-3 toe cutaneous syndactyly | 3.1% | 1/32 |
Skin / Hair / Nails | ||
Abnormality of the skin/hair/nails | 31.3% | 10/32 |
Fair hair | 15.6% | 5/32 |
Fine hair | 12.5% | 4/32 |
Aplasia/Hypoplasia of the nails | 3.1% | 1/32 |
Dry skin | 3.1% | 1/32 |
Eczema | 3.1% | 1/32 |
Hemangioma | 3.1% | 1/32 |
Thick hair | 3.1% | 1/32 |
Endocrine / Immunological / Metabolic | ||
Abnormality of the immune system | 50.0% | 15/30 |
Recurrent infections | 33.3% | 10/30 |
Recurrent infections in infancy and early childhood | 10.0% | 3/30 |
Conjunctivitis | 3.3% | 1/30 |
Esophagitis | 3.3% | 1/30 |
Recurrent otitis media | 3.3% | 1/30 |