PSMD12
| 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 atrophy | 8.3% | 1/12 |
| Cerebral hypomyelination | 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 |
| Anisocoria | 2.8% | 1/36 |
| Anisometropia | 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 thumb | 3.0% | 1/33 |
| Abnormality of the upper limb | 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 |