SETBP1 related developmental delay
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 56.5% | 13/23 |
| Female | 43.5% | 10/23 |
| Indifferent | 0% | 0/23 |
| Unknown | 0% | 0/23 |
| General | ||
| Birth Length abnormalities | 0% | 0/23 |
| Birth Weight abnormalities | 4.3% | 1/23 |
| < P3 : Small for gestational age | 4.3% | 1/23 |
| Birth Head circumference abnormalities | 0% | 0/23 |
| Current Height abnormalities | 4.3% | 1/23 |
| < P3 : Short stature | 4.3% | 1/23 |
| Current Weight abnormalities | 21.7% | 5/23 |
| > P98 : Increased body weight | 8.7% | 2/23 |
| < P3 : Decreased body weight | 13.0% | 3/23 |
| Current Head circumference abnormalities | 17.4% | 4/23 |
| < P3 : Microcephaly | 13.0% | 3/23 |
| > P98 : Macrocephaly | 4.3% | 1/23 |
| Neurology | ||
| Neurological abnormalities | 81.8% | 18/22 |
| Poor speech | 31.8% | 7/22 |
| Global developmental delay | 27.3% | 6/22 |
| Severe expressive language delay | 22.7% | 5/22 |
| Generalized hypotonia | 13.6% | 3/22 |
| Mild receptive language delay | 13.6% | 3/22 |
| Absent speech | 9.1% | 2/22 |
| Febrile seizures | 9.1% | 2/22 |
| Seizures | 9.1% | 2/22 |
| Absence seizures | 4.5% | 1/22 |
| Ataxia | 4.5% | 1/22 |
| Delayed speech and language development | 4.5% | 1/22 |
| Facial paralysis | 4.5% | 1/22 |
| Generalized muscle hypertrophy | 4.5% | 1/22 |
| Generalized seizures | 4.5% | 1/22 |
| Generalized tonic seizures | 4.5% | 1/22 |
| Hand tremor | 4.5% | 1/22 |
| Hypertonia | 4.5% | 1/22 |
| Hypomimic face | 4.5% | 1/22 |
| Language impairment | 4.5% | 1/22 |
| Lower limb spasticity | 4.5% | 1/22 |
| Mild expressive language delay | 4.5% | 1/22 |
| Behavioral problems | 95.2% | 20/21 |
| Attention deficit hyperactivity disorder | 38.1% | 8/21 |
| Short attention span | 38.1% | 8/21 |
| Abnormal aggressive, impulsive or violent behavior | 23.8% | 5/21 |
| Anxiety | 14.3% | 3/21 |
| Hyperactivity | 14.3% | 3/21 |
| Aggressive behavior | 9.5% | 2/21 |
| Autistic behavior | 9.5% | 2/21 |
| Global developmental delay | 9.5% | 2/21 |
| Impulsivity | 9.5% | 2/21 |
| Obsessive-compulsive behavior | 9.5% | 2/21 |
| Abnormal fear/anxiety-related behavior | 4.8% | 1/21 |
| Apathy | 4.8% | 1/21 |
| Autism | 4.8% | 1/21 |
| Behavioral abnormality | 4.8% | 1/21 |
| Enuresis | 4.8% | 1/21 |
| Low frustration tolerance | 4.8% | 1/21 |
| Oral aversion | 4.8% | 1/21 |
| Sleep disturbance | 4.8% | 1/21 |
| Brain abnormality | 17.6% | 3/17 |
| Abnormal myelination | 5.9% | 1/17 |
| Arachnoid cyst | 5.9% | 1/17 |
| EEG abnormality | 5.9% | 1/17 |
| EEG with generalized epileptiform discharges | 5.9% | 1/17 |
| Hypoplasia of the corpus callosum | 5.9% | 1/17 |
| Microcephaly | 5.9% | 1/17 |
| Facial abnormalities | ||
| Abnormality of the ear | 60.0% | 12/20 |
| Low-set ears | 20.0% | 4/20 |
| Posteriorly rotated ears | 10.0% | 2/20 |
| Small earlobe | 10.0% | 2/20 |
| Abnormality of the outer ear | 5.0% | 1/20 |
| Abnormally folded helix | 5.0% | 1/20 |
| Anteverted ears | 5.0% | 1/20 |
| Large fleshy ears | 5.0% | 1/20 |
| Macrotia | 5.0% | 1/20 |
| Overfolded helix | 5.0% | 1/20 |
| Prominent antihelix | 5.0% | 1/20 |
| Protruding ear | 5.0% | 1/20 |
| Uplifted earlobe | 5.0% | 1/20 |
| Abnormality of the eye | 81.8% | 18/22 |
| Ptosis | 31.8% | 7/22 |
| Hypertelorism | 27.3% | 6/22 |
| Downslanted palpebral fissures | 22.7% | 5/22 |
| Blepharophimosis | 13.6% | 3/22 |
| Deeply set eye | 9.1% | 2/22 |
| Periorbital fullness | 9.1% | 2/22 |
| Prominent epicanthal folds | 9.1% | 2/22 |
| Abnormal size of the palpebral fissures | 4.5% | 1/22 |
| Bilateral ptosis | 4.5% | 1/22 |
| Epicanthus | 4.5% | 1/22 |
| Infra-orbital fold | 4.5% | 1/22 |
| Long eyelashes | 4.5% | 1/22 |
| Shallow orbits | 4.5% | 1/22 |
| Strabismus | 4.5% | 1/22 |
| Telecanthus | 4.5% | 1/22 |
| Abnormality of the nose | 52.2% | 12/23 |
| Broad nasal tip | 17.4% | 4/23 |
| Wide nasal bridge | 13.0% | 3/23 |
| Prominent nasal tip | 8.7% | 2/23 |
| Abnormality of the nasal tip | 4.3% | 1/23 |
| Broad philtrum | 4.3% | 1/23 |
| Depressed nasal bridge | 4.3% | 1/23 |
| Long nose | 4.3% | 1/23 |
| Narrow naris | 4.3% | 1/23 |
| Prominent nose | 4.3% | 1/23 |
| Prominent nasal bridge | 4.3% | 1/23 |
| Abnormality of the mouth | 63.6% | 14/22 |
| Thin upper lip vermilion | 22.7% | 5/22 |
| High palate | 18.2% | 4/22 |
| Long philtrum | 13.6% | 3/22 |
| Ankyloglossia | 9.1% | 2/22 |
| Narrow mouth | 9.1% | 2/22 |
| Smooth philtrum | 9.1% | 2/22 |
| Thick lower lip vermilion | 9.1% | 2/22 |
| Broad alveolar ridges | 4.5% | 1/22 |
| Broad philtrum | 4.5% | 1/22 |
| Misalignment of teeth | 4.5% | 1/22 |
| Oligodontia | 4.5% | 1/22 |
| Short philtrum | 4.5% | 1/22 |
| Tented upper lip vermilion | 4.5% | 1/22 |
| Visual and hearing impairments | ||
| Abnormal hearing | 7.1% | 1/14 |
| Adult onset sensorineural hearing impairment | 7.1% | 1/14 |
| Abnormal vision | 57.1% | 8/14 |
| Hypermetropia | 21.4% | 3/14 |
| Abnormality of binocular vision | 7.1% | 1/14 |
| Abnormality of refraction | 7.1% | 1/14 |
| Amblyopia | 7.1% | 1/14 |
| Astigmatism | 7.1% | 1/14 |
| Exotropia | 7.1% | 1/14 |
| Myopia | 7.1% | 1/14 |
| Pulmonary | ||
| Abnormality of the lungs | 16.7% | 1/6 |
| Tracheomalacia | 16.7% | 1/6 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 18.8% | 3/16 |
| Abnormality of the intestine | 6.3% | 1/16 |
| Abnormality of the anus | 6.3% | 1/16 |
| Celiac disease | 6.3% | 1/16 |
| Urogenital | ||
| Abnormality of the urogenital system | 21.4% | 3/14 |
| Abnormality of the kidney | 7.1% | 1/14 |
| Bilateral cryptorchidism | 7.1% | 1/14 |
| Hydronephrosis | 7.1% | 1/14 |
| Shawl scrotum | 7.1% | 1/14 |
| Spastic/hyperactive bladder | 7.1% | 1/14 |
| Skeleton | ||
| Skeletal abnormalities | 43.8% | 7/16 |
| Clinodactyly of the 5th finger | 12.5% | 2/16 |
| Toe clinodactyly | 12.5% | 2/16 |
| Abnormality of the skull | 6.3% | 1/16 |
| Broad hallux | 6.3% | 1/16 |
| Delayed skeletal maturation | 6.3% | 1/16 |
| Long toe | 6.3% | 1/16 |
| Long fingers | 6.3% | 1/16 |
| Narrow chest | 6.3% | 1/16 |
| Pectus excavatum | 6.3% | 1/16 |
| Prominent interdigital folds | 6.3% | 1/16 |
| Short toe | 6.3% | 1/16 |
| Short finger | 6.3% | 1/16 |
| Thoracic kyphosis | 6.3% | 1/16 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 57.1% | 12/21 |
| Cafe-au-lait spot | 19.0% | 4/21 |
| Eczema | 9.5% | 2/21 |
| Abnormality of the hairline | 4.8% | 1/21 |
| Absent fourth finger distal interphalangeal crease | 4.8% | 1/21 |
| Brittle hair | 4.8% | 1/21 |
| Dry skin | 4.8% | 1/21 |
| Few cafe-au-lait spots | 4.8% | 1/21 |
| Hirsutism | 4.8% | 1/21 |
| Localized hirsutism | 4.8% | 1/21 |
| Naevus flammeus of the eyelid | 4.8% | 1/21 |
| Nail-biting | 4.8% | 1/21 |
| 2-3 finger syndactyly | 4.8% | 1/21 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the metabolic system | 11.8% | 2/17 |
| Microcytic anemia | 5.9% | 1/17 |
| Type II diabetes mellitus | 5.9% | 1/17 |
| Abnormality of the immune system | 6.3% | 1/16 |
| Cow milk allergy | 6.3% | 1/16 |