PSMD12

Graph and Chart

Patient Overview : 43

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 53.5% 23/43
Female 46.5% 20/43
Indifferent 0% 0/43
Unknown 0% 0/43
General    
Birth Length abnormalities 14.0% 6/43
< P3 : Birth length less than 3rd percentile 14.0% 6/43
Birth Weight abnormalities 9.3% 4/43
< P3 : Small for gestational age 9.3% 4/43
Birth Head circumference abnormalities 2.3% 1/43
< P3 : Congenital microcephaly 2.3% 1/43
Current Height abnormalities 7.0% 3/43
< P3 : Short stature 7.0% 3/43
Current Weight abnormalities 4.7% 2/43
< P3 : Decreased body weight 4.7% 2/43
Current Head circumference abnormalities 4.7% 2/43
> P98 : Macrocephaly 2.3% 1/43
< P3 : Microcephaly 2.3% 1/43
Neurology    
Neurological abnormalities 37.1% 13/35
Muscular hypotonia 14.3% 5/35
Seizures 14.3% 5/35
Sleep apnea 5.7% 2/35
Abnormality of the optic nerve 2.9% 1/35
Generalized tonic-clonic seizures 2.9% 1/35
Migraine 2.9% 1/35
Obstructive sleep apnea 2.9% 1/35
Optic nerve hypoplasia 2.9% 1/35
Tremor 2.9% 1/35
Behavioral problems 67.6% 23/34
Autism 26.5% 9/34
Behavioral abnormality 11.8% 4/34
Attention deficit hyperactivity disorder 8.8% 3/34
Autistic behavior 8.8% 3/34
Stereotypic behavior 8.8% 3/34
Anxiety 5.9% 2/34
Hyperactivity 5.9% 2/34
Poor eye contact 5.9% 2/34
Shyness 5.9% 2/34
Echolalia 2.9% 1/34
Low frustration tolerance 2.9% 1/34
Paranoia 2.9% 1/34
Brain abnormality 25.0% 3/12
Pineal cyst 16.7% 2/12
Abnormality of the cerebral white matter 8.3% 1/12
Cerebral hypomyelination 8.3% 1/12
Cerebral atrophy 8.3% 1/12
Periventricular gray matter heterotopia 8.3% 1/12
Ventriculomegaly 8.3% 1/12
Facial abnormalities    
Abnormality of the ear 71.0% 22/31
Low-set, posteriorly rotated ears 29.0% 9/31
Low-set ears 22.6% 7/31
Abnormality of the outer ear 16.1% 5/31
Small earlobe 6.5% 2/31
Abnormality of earlobe 3.2% 1/31
Aplasia/Hypoplasia of the external ear 3.2% 1/31
Bilateral sensorineural hearing impairment 3.2% 1/31
Microtia 3.2% 1/31
Morphological abnormality of the anterior semicircular canal 3.2% 1/31
Posteriorly rotated ears 3.2% 1/31
Uplifted earlobe 3.2% 1/31
Abnormality of the eye 61.5% 8/13
Hypertelorism 38.5% 5/13
Congenital strabismus 7.7% 1/13
Downslanted palpebral fissures 7.7% 1/13
Exotropia 7.7% 1/13
Horizontal nystagmus 7.7% 1/13
Nystagmus 7.7% 1/13
Ptosis 7.7% 1/13
Abnormality of the nose 41.7% 5/12
Large beaked nose 16.7% 2/12
Bulbous nose 8.3% 1/12
Low hanging columella 8.3% 1/12
Prominent nose 8.3% 1/12
Wide nasal bridge 8.3% 1/12
Abnormality of the mouth 50.0% 7/14
Abnormality of the mandible 21.4% 3/14
Microretrognathia 14.3% 2/14
Narrow mouth 14.3% 2/14
Short philtrum 14.3% 2/14
Absent cupid's bow 7.1% 1/14
Downturned corners of mouth 7.1% 1/14
High palate 7.1% 1/14
Hypoplasia of dental enamel 7.1% 1/14
Long philtrum 7.1% 1/14
Micrognathia 7.1% 1/14
Retrognathia 7.1% 1/14
Smooth philtrum 7.1% 1/14
Thin upper lip vermilion 7.1% 1/14
Visual and hearing impairments    
Abnormal hearing 13.3% 4/30
Hearing impairment 10.0% 3/30
Bilateral sensorineural hearing impairment 3.3% 1/30
Abnormal vision 50.0% 18/36
Strabismus 19.4% 7/36
Amblyopia 5.6% 2/36
Astigmatism 5.6% 2/36
Iris coloboma 5.6% 2/36
Myopia 5.6% 2/36
Abnormal conjugate eye movement 2.8% 1/36
Anisometropia 2.8% 1/36
Anisocoria 2.8% 1/36
Coloboma 2.8% 1/36
Corneal opacity 2.8% 1/36
Cortical visual impairment 2.8% 1/36
Hypermetropia 2.8% 1/36
Impaired smooth pursuit 2.8% 1/36
Peters anomaly 2.8% 1/36
Ptosis 2.8% 1/36
Heart    
Abnormality of the heart 35.7% 15/42
Patent ductus arteriosus 14.3% 6/42
Atria septal defect 9.5% 4/42
Ventricular septal defect 7.1% 3/42
Abnormality of the cardiovascular system 4.8% 2/42
Bicuspid aortic valve 4.8% 2/42
Aortic dilatation 2.4% 1/42
Coarctation of aorta 2.4% 1/42
Dysplastic pulmonary valve 2.4% 1/42
Heart murmur 2.4% 1/42
Hypertension 2.4% 1/42
Hypoplastic tricuspid valve 2.4% 1/42
Left ventricular noncompaction cardiomyopathy 2.4% 1/42
Muscular ventricular septal defect 2.4% 1/42
Partial anomalous pulmonary venous return 2.4% 1/42
Patent foramen ovale 2.4% 1/42
Persistent patent ductus venosus 2.4% 1/42
Primum atrial septal defect 2.4% 1/42
Tetralogy of Fallot 2.4% 1/42
Gastrointestinal    
Gastrointestinal abnormalities 21.2% 7/33
Feeding difficulties 12.1% 4/33
Constipation 9.1% 3/33
Gastroesophageal reflux 6.1% 2/33
Feeding difficulties in infancy 3.0% 1/33
Oral aversion 3.0% 1/33
Urogenital    
Abnormality of the urogenital system 56.1% 23/41
Hypospadias 12.2% 5/41
Abnormality of the kidney 9.8% 4/41
Horseshoe kidney 9.8% 4/41
Micropenis 9.8% 4/41
Hydronephrosis 7.3% 3/41
Precocious puberty 7.3% 3/41
Abnormality of male external genitalia 4.9% 2/41
Cryptorchidism 4.9% 2/41
Ectopic kidney 4.9% 2/41
Unilateral renal agenesis 4.9% 2/41
Abnormal renal morphology 2.4% 1/41
Abnormality of the renal pelvis 2.4% 1/41
Bilateral fetal pyelectasis 2.4% 1/41
Fetal pyelectasis 2.4% 1/41
Neurogenic bladder 2.4% 1/41
Puberty and gonadal disorders 2.4% 1/41
Renal hypoplasia 2.4% 1/41
Shawl scrotum 2.4% 1/41
Ureteral duplication 2.4% 1/41
Urinary incontinence 2.4% 1/41
Urinary retention 2.4% 1/41
Vesicoureteral reflux 2.4% 1/41
Skeleton    
Skeletal abnormalities 54.5% 18/33
Short thumb 15.2% 5/33
2-3 toe syndactyly 12.1% 4/33
Abnormality of the lower limb 9.1% 3/33
Sacral dimple 9.1% 3/33
Sandal gap 9.1% 3/33
2-3 toe cutaneous syndactyly 9.1% 3/33
Clinodactyly of the 5th finger 6.1% 2/33
Abnormality of the upper limb 3.0% 1/33
Abnormality of the thumb 3.0% 1/33
Absent thumb 3.0% 1/33
Adducted thumb 3.0% 1/33
Aplasia/Hypoplasia of the thumb 3.0% 1/33
Brachydactyly syndrome 3.0% 1/33
Clinodactyly of the 4th finger 3.0% 1/33
Clubbing of fingers 3.0% 1/33
Clubbing of toes 3.0% 1/33
Enlarged epiphyses of the hallux 3.0% 1/33
Finger joint hypermobility 3.0% 1/33
Hand polydactyly 3.0% 1/33
Hip dysplasia 3.0% 1/33
Metatarsus adductus 3.0% 1/33
Missing ribs 3.0% 1/33
Proximal placement of thumb 3.0% 1/33
Scoliosis 3.0% 1/33
Short stature 3.0% 1/33
Short sternum 3.0% 1/33
Syndactyly 3.0% 1/33
Tapered finger 3.0% 1/33
Triangular shaped phalanges of the hand 3.0% 1/33
Wide anterior fontanel 3.0% 1/33
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 32.0% 8/25
Acrocyanosis 8.0% 2/25
Cutis marmorata 8.0% 2/25
Abnormality of the nipple 4.0% 1/25
Aplasia cutis congenita over the scalp vertex 4.0% 1/25
Fragile nails 4.0% 1/25
Striae distensae 4.0% 1/25
Vascular skin abnormality 4.0% 1/25
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 11.1% 1/9
Central hypothyroidism 11.1% 1/9
Abnormality of the immune system 11.1% 1/9
Recurrent urinary tract infections 11.1% 1/9
Neoplasia    
Neoplasia 4.8% 2/42
Lymphangioma 2.4% 1/42
Neoplasm of the ear 2.4% 1/42