SETBP1 related developmental delay

Graph and Chart

Patient Overview : 15

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 53.3% 8/15
Female 46.7% 7/15
Indifferent 0% 0/15
Unknown 0% 0/15
General    
Birth Length abnormalities 0% 0/15
Birth Weight abnormalities 6.7% 1/15
< P3 : Small for gestational age 6.7% 1/15
Birth Head circumference abnormalities 0% 0/15
Current Height abnormalities 6.7% 1/15
< P3 : Short stature 6.7% 1/15
Current Weight abnormalities 26.7% 4/15
> P98 : Increased body weight 6.7% 1/15
< P3 : Decreased body weight 20.0% 3/15
Current Head circumference abnormalities 13.3% 2/15
< P3 : Microcephaly 13.3% 2/15
Neurology    
Neurological abnormalities 86.7% 13/15
Poor speech 46.7% 7/15
Global developmental delay 40.0% 6/15
Severe expressive language delay 33.3% 5/15
Mild receptive language delay 20.0% 3/15
Absent speech 13.3% 2/15
Febrile seizures 13.3% 2/15
Delayed speech and language development 6.7% 1/15
Generalized seizures 6.7% 1/15
Generalized hypotonia 6.7% 1/15
Hand tremor 6.7% 1/15
Hypomimic face 6.7% 1/15
Language impairment 6.7% 1/15
Lower limb spasticity 6.7% 1/15
Mild expressive language delay 6.7% 1/15
Seizures 6.7% 1/15
Behavioral problems 92.3% 12/13
Attention deficit hyperactivity disorder 46.2% 6/13
Abnormal aggressive, impulsive or violent behavior 38.5% 5/13
Short attention span 30.8% 4/13
Autistic behavior 15.4% 2/13
Abnormal fear/anxiety-related behavior 7.7% 1/13
Anxiety 7.7% 1/13
Apathy 7.7% 1/13
Autism 7.7% 1/13
Hyperactivity 7.7% 1/13
Impulsivity 7.7% 1/13
Sleep disturbance 7.7% 1/13
Brain abnormality 10.0% 1/10
Abnormal myelination 10.0% 1/10
Microcephaly 10.0% 1/10
Facial abnormalities    
Abnormality of the ear 41.7% 5/12
Low-set ears 25.0% 3/12
Small earlobe 16.7% 2/12
Anteverted ears 8.3% 1/12
Large fleshy ears 8.3% 1/12
Abnormality of the eye 71.4% 10/14
Hypertelorism 21.4% 3/14
Ptosis 21.4% 3/14
Deeply set eye 14.3% 2/14
Periorbital fullness 14.3% 2/14
Prominent epicanthal folds 14.3% 2/14
Abnormal size of the palpebral fissures 7.1% 1/14
Bilateral ptosis 7.1% 1/14
Blepharophimosis 7.1% 1/14
Downslanted palpebral fissures 7.1% 1/14
Epicanthus 7.1% 1/14
Strabismus 7.1% 1/14
Abnormality of the nose 46.7% 7/15
Broad nasal tip 26.7% 4/15
Broad philtrum 6.7% 1/15
Depressed nasal bridge 6.7% 1/15
Long nose 6.7% 1/15
Narrow naris 6.7% 1/15
Prominent nasal bridge 6.7% 1/15
Wide nasal bridge 6.7% 1/15
Abnormality of the mouth 50.0% 7/14
High palate 21.4% 3/14
Thin upper lip vermilion 14.3% 2/14
Ankyloglossia 7.1% 1/14
Broad philtrum 7.1% 1/14
Long philtrum 7.1% 1/14
Misalignment of teeth 7.1% 1/14
Oligodontia 7.1% 1/14
Smooth philtrum 7.1% 1/14
Visual and hearing impairments    
Abnormal hearing 14.3% 1/7
Adult onset sensorineural hearing impairment 14.3% 1/7
Abnormal vision 42.9% 3/7
Abnormality of refraction 14.3% 1/7
Hypermetropia 14.3% 1/7
Myopia 14.3% 1/7
Gastrointestinal    
Gastrointestinal abnormalities 11.1% 1/9
Abnormality of the intestine 11.1% 1/9
Urogenital    
Abnormality of the urogenital system 12.5% 1/8
Abnormality of the kidney 12.5% 1/8
Bilateral cryptorchidism 12.5% 1/8
Hydronephrosis 12.5% 1/8
Skeleton    
Skeletal abnormalities 40.0% 4/10
Abnormality of the skull 10.0% 1/10
Clinodactyly of the 5th finger 10.0% 1/10
Long toe 10.0% 1/10
Long fingers 10.0% 1/10
Pectus excavatum 10.0% 1/10
Prominent interdigital folds 10.0% 1/10
Thoracic kyphosis 10.0% 1/10
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 50.0% 7/14
Cafe-au-lait spot 14.3% 2/14
Absent fourth finger distal interphalangeal crease 7.1% 1/14
Brittle hair 7.1% 1/14
Eczema 7.1% 1/14
Few cafe-au-lait spots 7.1% 1/14
Hirsutism 7.1% 1/14
Naevus flammeus of the eyelid 7.1% 1/14
Nail-biting 7.1% 1/14
2-3 finger syndactyly 7.1% 1/14
Endocrine / Immunological / Metabolic    
Abnormality of the metabolic system 18.2% 2/11
Microcytic anemia 9.1% 1/11
Type II diabetes mellitus 9.1% 1/11