Patient Overview : 13

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 53.8% 7/13
Female 46.2% 6/13
Neurology    
Neurological abnormalities 69.2% 9/13
Feeding difficulties 30.8% 4/13
Muscular hypotonia 30.8% 4/13
Seizures 23.1% 3/13
Dysphagia 15.4% 2/13
Delayed social development 7.7% 1/13
Hemiparesis 7.7% 1/13
Limb hypertonia 7.7% 1/13
Migraine 7.7% 1/13
Nystagmus 7.7% 1/13
Behavioral problems 53.8% 7/13
Sleep disturbance 30.8% 4/13
Attention deficit hyperactivity disorder 23.1% 3/13
Autism 23.1% 3/13
Abnormal aggressive, impulsive or violent behavior 7.7% 1/13
Hyperactivity 7.7% 1/13
Brain abnormality 36.4% 4/11
Aplasia/Hypoplasia of the corpus callosum 9.1% 1/11
Gliosis 9.1% 1/11
Retrocerebellar cyst 9.1% 1/11
Thick corpus callosum 9.1% 1/11
Facial abnormalities    
Abnormality of the ear 61.5% 8/13
Long ear 61.5% 8/13
Low-set, posteriorly rotated ears 7.7% 1/13
Abnormality of the eye 84.6% 11/13
Ptosis 46.2% 6/13
Downslanted palpebral fissures 38.5% 5/13
Upslanted palpebral fissure 30.8% 4/13
Strabismus 15.4% 2/13
Hypertelorism 7.7% 1/13
Large eyes 7.7% 1/13
Low-set, posteriorly rotated ears 7.7% 1/13
Small palpebral fissure 7.7% 1/13
Telecanthus 7.7% 1/13
Abnormality of the nose 100.0% 13/13
Prominent nasal tip 100.0% 13/13
Low hanging columella 46.2% 6/13
Prominent nasal bridge 15.4% 2/13
Depressed nasal bridge 7.7% 1/13
Short nasal bridge 7.7% 1/13
Abnormality of the mouth 100.0% 13/13
Wide mouth 92.3% 12/13
Thin upper lip vermilion 84.6% 11/13
Abnormality of the palate 7.7% 1/13
High palate 7.7% 1/13
Visual and hearing impairments    
Abnormal hearing 15.4% 2/13
Hearing impairment 15.4% 2/13
Enlarged vestibular aqueduct 7.7% 1/13
Abnormal vision 15.4% 2/13
Astigmatism 7.7% 1/13
Myopia 7.7% 1/13
Visual impairment 7.7% 1/13
Heart    
Abnormality of the heart 15.4% 2/13
Interrupted inferior vena cava with azygous continuation 7.7% 1/13
Ventricular septal defect 7.7% 1/13
Gastrointestinal    
Gastrointestinal abnormalities 30.8% 4/13
Episodic vomiting 15.4% 2/13
Duodenal atresia 7.7% 1/13
Feeding difficulties 7.7% 1/13
Urogenital    
Abnormality of the urogenital system 7.7% 1/13
Hypospadias 7.7% 1/13
Skeleton    
Skeletal abnormalities 53.8% 7/13
Joint hypermobility 23.1% 3/13
Pes planus 15.4% 2/13
Sandal gap 15.4% 2/13
Broad distal phalanx of the thumb 7.7% 1/13
Clinodactyly of the 5th finger 7.7% 1/13
Hip dysplasia 7.7% 1/13
Long fingers 7.7% 1/13
Scoliosis 7.7% 1/13
Short finger 7.7% 1/13
Small hand 7.7% 1/13
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 23.1% 3/13
Abnormality of the teeth 7.7% 1/13
Hypodontia 7.7% 1/13
Hypopigmentation of hair 7.7% 1/13
Sandal gap 7.7% 1/13
Small finger 7.7% 1/13
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 15.4% 2/13
Congenital hypothyroidism 7.7% 1/13
Growth hormone deficiency 7.7% 1/13
Vitamin D deficiency 7.7% 1/13
Abnormality of the immune system 7.7% 1/13
Recurrent urinary tract infections 7.7% 1/13
Neoplasia    
Neoplasia 15.4% 2/13
Acute myeloid leukemia 7.7% 1/13
Hodgkin lymphoma 7.7% 1/13