EBF3

Graph and Chart

Patient Overview : 35

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 45.7% 16/35
Female 54.3% 19/35
Indifferent 0% 0/35
Unknown 0% 0/35
General    
Birth Length abnormalities 8.6% 3/35
< P3 : Birth length less than 3rd percentile 8.6% 3/35
Birth Weight abnormalities 14.3% 5/35
< P3 : Small for gestational age 11.4% 4/35
> P98 : Large for gestational age 2.9% 1/35
Birth Head circumference abnormalities 8.6% 3/35
> P98 : Macrocephaly at birth 2.9% 1/35
< P3 : Congenital microcephaly 5.7% 2/35
Current Height abnormalities 20.0% 7/35
< P3 : Short stature 20.0% 7/35
Current Weight abnormalities 14.3% 5/35
< P3 : Decreased body weight 11.4% 4/35
> P98 : Increased body weight 2.9% 1/35
Current Head circumference abnormalities 5.7% 2/35
> P98 : Macrocephaly 2.9% 1/35
< P3 : Microcephaly 2.9% 1/35
Neurology    
Neurological abnormalities 100.0% 35/35
Motor delay 91.4% 32/35
Generalized hypotonia 80.0% 28/35
Delayed speech and language development 77.1% 27/35
Ataxia 54.3% 19/35
Gait ataxia 40.0% 14/35
Dysarthria 20.0% 7/35
EEG abnormality 17.1% 6/35
Incoordination 17.1% 6/35
Febrile seizures 11.4% 4/35
Hypomimic face 11.4% 4/35
Seizures 8.6% 3/35
Myopathy 5.7% 2/35
Speech apraxia 5.7% 2/35
Difficulty walking 2.9% 1/35
Hypertonia 2.9% 1/35
Intellectual disability, moderate 2.9% 1/35
Language impairment 2.9% 1/35
Neurodevelopmental delay 2.9% 1/35
Behavioral problems 100.0% 14/14
Attention deficit hyperactivity disorder 42.9% 6/14
Autistic behavior 42.9% 6/14
Stereotypic behavior 28.6% 4/14
Autism 21.4% 3/14
Emotional lability 14.3% 2/14
Low frustration tolerance 7.1% 1/14
Motor tics 7.1% 1/14
Brain abnormality 35.7% 10/28
Abnormality of the cerebellum 28.6% 8/28
Cerebellar vermis hypoplasia 21.4% 6/28
Delayed myelination 7.1% 2/28
Abnormality of the cerebral ventricles 3.6% 1/28
Facial abnormalities    
Abnormality of the ear 73.3% 11/15
Low-set ears 6.7% 1/15
Abnormality of the eye 100.0% 23/23
Strabismus 91.3% 21/23
Nystagmus 8.7% 2/23
Almond-shaped palpebral fissure 4.3% 1/23
Broad eyebrow 4.3% 1/23
Synophrys 4.3% 1/23
Abnormality of the nose 87.5% 7/8
Abnormality of the nasal bridge 62.5% 5/8
Anteverted nares 25.0% 2/8
Abnormality of the mouth 100.0% 13/13
Abnormality of the lip 92.3% 12/13
Delayed eruption of permanent teeth 7.7% 1/13
High palate 7.7% 1/13
Long uvula 7.7% 1/13
Visual and hearing impairments    
Abnormal vision 100.0% 1/1
Strabismus 100.0% 1/1
Gastrointestinal    
Gastrointestinal abnormalities 91.7% 11/12
Feeding difficulties 66.7% 8/12
Constipation 33.3% 4/12
Gastroesophageal reflux 33.3% 4/12
Urogenital    
Abnormality of the urogenital system 94.7% 18/19
Neurogenic bladder 47.4% 9/19
Recurrent urinary tract infections 42.1% 8/19
Vesicoureteral reflux 42.1% 8/19
Abnormal external genitalia 31.6% 6/19
Abnormality of the kidney 26.3% 5/19
Abnormality of the bladder 26.3% 5/19
Cryptorchidism 15.8% 3/19
Abnormal female reproductive system physiology 10.5% 2/19
Skeleton    
Skeletal abnormalities 96.2% 25/26
Short stature 53.8% 14/26
Abnormality of the forehead 30.8% 8/26
Prominent forehead 26.9% 7/26
Broad chin 23.1% 6/26
Long face 23.1% 6/26
Short chin 23.1% 6/26
Triangular face 23.1% 6/26
Abnormality of the nasal bridge 15.4% 4/26
Pectus excavatum 15.4% 4/26
Clinodactyly 7.7% 2/26
Pointed chin 7.7% 2/26
Short digit 7.7% 2/26