PPM1D
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 65.6% | 40/61 |
| Female | 34.4% | 21/61 |
| Indifferent | 0% | 0/61 |
| Unknown | 0% | 0/61 |
| General | ||
| Birth Length abnormalities | 6.4% | 3/47 |
| < P3 : Birth length less than 3rd percentile | 6.4% | 3/47 |
| Birth Weight abnormalities | 11.5% | 7/61 |
| < P3 : Small for gestational age | 9.8% | 6/61 |
| > P98 : Large for gestational age | 1.6% | 1/61 |
| Birth Head circumference abnormalities | 0% | 0/48 |
| Current Height abnormalities | 50.8% | 31/61 |
| < P3 : Short stature | 50.8% | 31/61 |
| Current Weight abnormalities | 26.2% | 16/61 |
| > P98 : Increased body weight | 6.6% | 4/61 |
| < P3 : Decreased body weight | 19.7% | 12/61 |
| Current Head circumference abnormalities | 24.6% | 15/61 |
| < P3 : Microcephaly | 19.7% | 12/61 |
| > P98 : Macrocephaly | 4.9% | 3/61 |
| Neurology | ||
| Neurological abnormalities | 87.7% | 50/57 |
| Muscular hypotonia | 43.9% | 25/57 |
| Sleep disturbance | 24.6% | 14/57 |
| Abnormality of pain sensation | 21.1% | 12/57 |
| Generalized hypotonia | 21.1% | 12/57 |
| Hyperacusis | 21.1% | 12/57 |
| Global developmental delay | 15.8% | 9/57 |
| Impaired pain sensation | 10.5% | 6/57 |
| Tremor | 10.5% | 6/57 |
| Broad-based gait | 8.8% | 5/57 |
| Seizures | 5.3% | 3/57 |
| Febrile seizures | 3.5% | 2/57 |
| Neonatal hypotonia | 3.5% | 2/57 |
| Pain insensitivity | 3.5% | 2/57 |
| Absence seizures | 1.8% | 1/57 |
| Dyscalculia | 1.8% | 1/57 |
| Dyslexia | 1.8% | 1/57 |
| Exaggerated startle response | 1.8% | 1/57 |
| Inappropriate behavior | 1.8% | 1/57 |
| Migraine | 1.8% | 1/57 |
| Moderate global developmental delay | 1.8% | 1/57 |
| Poor speech | 1.8% | 1/57 |
| Specific learning disability | 1.8% | 1/57 |
| Speech apraxia | 1.8% | 1/57 |
| Speech articulation difficulties | 1.8% | 1/57 |
| Behavioral problems | 85.2% | 46/54 |
| Abnormal social behavior | 42.6% | 23/54 |
| Anxiety | 40.7% | 22/54 |
| Attention deficit hyperactivity disorder | 33.3% | 18/54 |
| Autistic behavior | 24.1% | 13/54 |
| Aggressive behavior | 16.7% | 9/54 |
| Short attention span | 13.0% | 7/54 |
| Hyperacusis | 11.1% | 6/54 |
| Developmental regression | 5.6% | 3/54 |
| Inappropriate sexual behavior | 3.7% | 2/54 |
| Stereotypic behavior | 3.7% | 2/54 |
| Abnormal fear/anxiety-related behavior | 1.9% | 1/54 |
| Absent speech | 1.9% | 1/54 |
| Autism | 1.9% | 1/54 |
| Hyperactivity | 1.9% | 1/54 |
| Impaired pain sensation | 1.9% | 1/54 |
| Impulsivity | 1.9% | 1/54 |
| Mild global developmental delay | 1.9% | 1/54 |
| Mood changes | 1.9% | 1/54 |
| Oppositional defiant disorder | 1.9% | 1/54 |
| Pain insensitivity | 1.9% | 1/54 |
| Self-biting | 1.9% | 1/54 |
| Sleep disturbance | 1.9% | 1/54 |
| Brain abnormality | 36.4% | 8/22 |
| Ventriculomegaly | 13.6% | 3/22 |
| Delayed CNS myelination | 9.1% | 2/22 |
| Abnormality of the periventricular white matter | 4.5% | 1/22 |
| Abnormality of the cerebral vasculature | 4.5% | 1/22 |
| Cerebral hemorrhage | 4.5% | 1/22 |
| Cerebral cortical atrophy | 4.5% | 1/22 |
| Cerebellar atrophy | 4.5% | 1/22 |
| EEG abnormality | 4.5% | 1/22 |
| Extra-axial cerebrospinal fluid accumulation | 4.5% | 1/22 |
| Facial abnormalities | ||
| Abnormality of the ear | 23.2% | 13/56 |
| Low-set, posteriorly rotated ears | 19.6% | 11/56 |
| Abnormality of the pinna | 1.8% | 1/56 |
| Low-set ears | 1.8% | 1/56 |
| Posteriorly rotated ears | 1.8% | 1/56 |
| Prominent ear helix | 1.8% | 1/56 |
| Abnormality of the eye | 29.3% | 17/58 |
| Epicanthus | 6.9% | 4/58 |
| Strabismus | 6.9% | 4/58 |
| Highly arched eyebrow | 3.4% | 2/58 |
| Hypotelorism | 3.4% | 2/58 |
| Long eyelashes | 3.4% | 2/58 |
| Upslanted palpebral fissure | 3.4% | 2/58 |
| Bilateral microphthalmos | 1.7% | 1/58 |
| Deeply set eye | 1.7% | 1/58 |
| Esotropia | 1.7% | 1/58 |
| Hypertelorism | 1.7% | 1/58 |
| Long palpebral fissure | 1.7% | 1/58 |
| Low hanging columella | 1.7% | 1/58 |
| Prominent eyelashes | 1.7% | 1/58 |
| Sparse eyebrow | 1.7% | 1/58 |
| Sparse lateral eyebrow | 1.7% | 1/58 |
| Abnormality of the nose | 21.1% | 12/57 |
| Anteverted nares | 10.5% | 6/57 |
| Bulbous nose | 3.5% | 2/57 |
| Narrow naris | 3.5% | 2/57 |
| Short columella | 3.5% | 2/57 |
| Depressed nasal tip | 1.8% | 1/57 |
| Flat nasal alae | 1.8% | 1/57 |
| Short nose | 1.8% | 1/57 |
| Wide nose | 1.8% | 1/57 |
| Abnormality of the mouth | 98.3% | 57/58 |
| Thin upper lip vermilion | 81.0% | 47/58 |
| Wide mouth | 75.9% | 44/58 |
| Downturned corners of mouth | 44.8% | 26/58 |
| Abnormality of mouth size | 5.2% | 3/58 |
| High, narrow palate | 3.4% | 2/58 |
| Smooth philtrum | 3.4% | 2/58 |
| Thick lower lip vermilion | 3.4% | 2/58 |
| Thin vermilion border | 3.4% | 2/58 |
| Broad philtrum | 1.7% | 1/58 |
| Delayed eruption of teeth | 1.7% | 1/58 |
| High palate | 1.7% | 1/58 |
| Incisor macrodontia | 1.7% | 1/58 |
| Short philtrum | 1.7% | 1/58 |
| Short lingual frenulum | 1.7% | 1/58 |
| Thick vermilion border | 1.7% | 1/58 |
| Unilateral cleft lip | 1.7% | 1/58 |
| Unilateral cleft palate | 1.7% | 1/58 |
| Visual and hearing impairments | ||
| Abnormal hearing | 1.7% | 1/60 |
| Hypermetropia | 1.7% | 1/60 |
| Abnormal vision | 56.9% | 29/51 |
| Strabismus | 27.5% | 14/51 |
| Hypermetropia | 25.5% | 13/51 |
| Astigmatism | 15.7% | 8/51 |
| Myopia | 15.7% | 8/51 |
| Amblyopia | 7.8% | 4/51 |
| Nystagmus | 5.9% | 3/51 |
| Esotropia | 3.9% | 2/51 |
| Abnormality of vision | 2.0% | 1/51 |
| Cortical visual impairment | 2.0% | 1/51 |
| Iridocyclitis | 2.0% | 1/51 |
| Retinal detachment | 2.0% | 1/51 |
| Unilateral strabismus | 2.0% | 1/51 |
| Heart | ||
| Abnormality of the heart | 8.6% | 5/58 |
| Patent ductus arteriosus | 3.4% | 2/58 |
| Ventricular septal defect | 3.4% | 2/58 |
| Atria septal defect | 1.7% | 1/58 |
| Bicuspid aortic valve | 1.7% | 1/58 |
| Hypertrophic cardiomyopathy | 1.7% | 1/58 |
| Pericardial effusion | 1.7% | 1/58 |
| Pulmonary | ||
| Abnormality of the lungs | 6.8% | 3/44 |
| Apnea | 2.3% | 1/44 |
| Breathing dysregulation | 2.3% | 1/44 |
| Bronchitis | 2.3% | 1/44 |
| Recurrent respiratory infections | 2.3% | 1/44 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 87.7% | 50/57 |
| Constipation | 63.2% | 36/57 |
| Vomiting | 52.6% | 30/57 |
| Gastroesophageal reflux | 36.8% | 21/57 |
| Feeding difficulties | 12.3% | 7/57 |
| Feeding difficulties in infancy | 10.5% | 6/57 |
| Intermittent diarrhea | 3.5% | 2/57 |
| Anal fissure | 1.8% | 1/57 |
| Bowel incontinence | 1.8% | 1/57 |
| Episodic vomiting | 1.8% | 1/57 |
| Hepatomegaly | 1.8% | 1/57 |
| Poor suck | 1.8% | 1/57 |
| Volvulus | 1.8% | 1/57 |
| Urogenital | ||
| Abnormality of the urogenital system | 25.5% | 13/51 |
| Cryptorchidism | 13.7% | 7/51 |
| Bilateral cryptorchidism | 2.0% | 1/51 |
| Hypoplastic male external genitalia | 2.0% | 1/51 |
| Hypospadias | 2.0% | 1/51 |
| Micropenis | 2.0% | 1/51 |
| Pyloric stenosis | 2.0% | 1/51 |
| Retractile testis | 2.0% | 1/51 |
| Urinary incontinence | 2.0% | 1/51 |
| Skeleton | ||
| Skeletal abnormalities | 71.9% | 41/57 |
| Small hand | 59.6% | 34/57 |
| Short foot | 57.9% | 33/57 |
| Hyperlordosis | 14.0% | 8/57 |
| Brachydactyly syndrome | 10.5% | 6/57 |
| Abnormality of skeletal maturation | 5.3% | 3/57 |
| Broad hallux | 5.3% | 3/57 |
| Finger clinodactyly | 5.3% | 3/57 |
| Broad finger | 3.5% | 2/57 |
| Broad thumb | 3.5% | 2/57 |
| Delayed skeletal maturation | 3.5% | 2/57 |
| Lumbar hyperlordosis | 3.5% | 2/57 |
| Abnormality of the thumb | 1.8% | 1/57 |
| Abnormality of the distal phalanges of the toes | 1.8% | 1/57 |
| Abnormality of the mandible | 1.8% | 1/57 |
| Abnormality of the patella | 1.8% | 1/57 |
| Absent middle phalanx of 5th finger | 1.8% | 1/57 |
| Brachycephaly | 1.8% | 1/57 |
| Broad toe | 1.8% | 1/57 |
| Complete duplication of the distal phalanx of the 5th finger | 1.8% | 1/57 |
| Congenital pseudoarthrosis of the clavicle | 1.8% | 1/57 |
| Delayed ossification of carpal bones | 1.8% | 1/57 |
| Enlarged epiphysis of the distal phalanx of the thumb | 1.8% | 1/57 |
| Exostoses | 1.8% | 1/57 |
| Hallux varus | 1.8% | 1/57 |
| Hyperextensible thumb | 1.8% | 1/57 |
| Hyperextensibility of the finger joints | 1.8% | 1/57 |
| Parietal foramina | 1.8% | 1/57 |
| Partial duplication of the distal phalanx of the hallux | 1.8% | 1/57 |
| Plagiocephaly | 1.8% | 1/57 |
| Prominent metopic ridge | 1.8% | 1/57 |
| Short neck | 1.8% | 1/57 |
| Short distal phalanx of the thumb | 1.8% | 1/57 |
| Short 1st metacarpal | 1.8% | 1/57 |
| Short finger | 1.8% | 1/57 |
| Short thumb | 1.8% | 1/57 |
| Tapered finger | 1.8% | 1/57 |
| 3-4 finger syndactyly | 1.8% | 1/57 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 49.1% | 28/57 |
| Small nail | 28.1% | 16/57 |
| Hypoplastic toenails | 8.8% | 5/57 |
| Nail dysplasia | 3.5% | 2/57 |
| Abnormality of the toenails | 1.8% | 1/57 |
| Acne | 1.8% | 1/57 |
| Bilateral single transverse palmar creases | 1.8% | 1/57 |
| Dystrophic toenail | 1.8% | 1/57 |
| Hyperhidrosis | 1.8% | 1/57 |
| Hypoplastic fingernail | 1.8% | 1/57 |
| Hypoplastic fifth toenail | 1.8% | 1/57 |
| Numerous nevi | 1.8% | 1/57 |
| Single transverse palmar crease | 1.8% | 1/57 |
| Subungual hyperkeratosis | 1.8% | 1/57 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 9.6% | 5/52 |
| Growth hormone deficiency | 9.6% | 5/52 |
| Abnormality of the metabolic system | 3.4% | 2/59 |
| Temperature instability | 3.4% | 2/59 |
| Recurrent hypoglycemia | 1.7% | 1/59 |
| Abnormality of the immune system | 56.0% | 28/50 |
| Recurrent infections | 30.0% | 15/50 |
| Recurrent otitis media | 30.0% | 15/50 |
| Episodic fever | 16.0% | 8/50 |
| Allergy | 2.0% | 1/50 |
| Aspiration pneumonia | 2.0% | 1/50 |
| Bronchiolitis | 2.0% | 1/50 |
| Pneumonia | 2.0% | 1/50 |
| Recurrent candida infections | 2.0% | 1/50 |
| Recurrent Staphylococcus aureus infections | 2.0% | 1/50 |
| Recurrent urinary tract infections | 2.0% | 1/50 |