PPM1D
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 63.6% | 35/55 |
| Female | 36.4% | 20/55 |
| Indifferent | 0% | 0/55 |
| Unknown | 0% | 0/55 |
| General | ||
| Birth Length abnormalities | 0% | 0/41 |
| Birth Weight abnormalities | 7.3% | 4/55 |
| < P3 : Small for gestational age | 5.5% | 3/55 |
| > P98 : Large for gestational age | 1.8% | 1/55 |
| Birth Head circumference abnormalities | 0% | 0/42 |
| Current Height abnormalities | 45.5% | 25/55 |
| < P3 : Short stature | 45.5% | 25/55 |
| Current Weight abnormalities | 29.1% | 16/55 |
| > P98 : Increased body weight | 7.3% | 4/55 |
| < P3 : Decreased body weight | 21.8% | 12/55 |
| Current Head circumference abnormalities | 23.6% | 13/55 |
| < P3 : Microcephaly | 18.2% | 10/55 |
| > P98 : Macrocephaly | 5.5% | 3/55 |
| Neurology | ||
| Neurological abnormalities | 88.7% | 47/53 |
| Muscular hypotonia | 47.2% | 25/53 |
| Sleep disturbance | 26.4% | 14/53 |
| Abnormality of pain sensation | 22.6% | 12/53 |
| Generalized hypotonia | 22.6% | 12/53 |
| Hyperacusis | 22.6% | 12/53 |
| Global developmental delay | 17.0% | 9/53 |
| Impaired pain sensation | 11.3% | 6/53 |
| Tremor | 11.3% | 6/53 |
| Broad-based gait | 9.4% | 5/53 |
| Febrile seizures | 3.8% | 2/53 |
| Pain insensitivity | 3.8% | 2/53 |
| Seizures | 3.8% | 2/53 |
| Absence seizures | 1.9% | 1/53 |
| Dyscalculia | 1.9% | 1/53 |
| Dyslexia | 1.9% | 1/53 |
| Exaggerated startle response | 1.9% | 1/53 |
| Inappropriate behavior | 1.9% | 1/53 |
| Migraine | 1.9% | 1/53 |
| Moderate global developmental delay | 1.9% | 1/53 |
| Poor speech | 1.9% | 1/53 |
| Specific learning disability | 1.9% | 1/53 |
| Speech articulation difficulties | 1.9% | 1/53 |
| Speech apraxia | 1.9% | 1/53 |
| Behavioral problems | 85.7% | 42/49 |
| Anxiety | 44.9% | 22/49 |
| Abnormal social behavior | 42.9% | 21/49 |
| Attention deficit hyperactivity disorder | 36.7% | 18/49 |
| Autistic behavior | 26.5% | 13/49 |
| Aggressive behavior | 18.4% | 9/49 |
| Hyperacusis | 12.2% | 6/49 |
| Short attention span | 12.2% | 6/49 |
| Developmental regression | 6.1% | 3/49 |
| Abnormal fear/anxiety-related behavior | 2.0% | 1/49 |
| Absent speech | 2.0% | 1/49 |
| Hyperactivity | 2.0% | 1/49 |
| Impaired pain sensation | 2.0% | 1/49 |
| Mood changes | 2.0% | 1/49 |
| Oppositional defiant disorder | 2.0% | 1/49 |
| Pain insensitivity | 2.0% | 1/49 |
| Self-biting | 2.0% | 1/49 |
| Sleep disturbance | 2.0% | 1/49 |
| Brain abnormality | 41.2% | 7/17 |
| Ventriculomegaly | 17.6% | 3/17 |
| Delayed CNS myelination | 11.8% | 2/17 |
| Abnormality of the cerebral vasculature | 5.9% | 1/17 |
| Abnormality of the periventricular white matter | 5.9% | 1/17 |
| Cerebellar atrophy | 5.9% | 1/17 |
| Cerebral cortical atrophy | 5.9% | 1/17 |
| EEG abnormality | 5.9% | 1/17 |
| Extra-axial cerebrospinal fluid accumulation | 5.9% | 1/17 |
| Facial abnormalities | ||
| Abnormality of the ear | 18.0% | 9/50 |
| Low-set, posteriorly rotated ears | 14.0% | 7/50 |
| Abnormality of the pinna | 2.0% | 1/50 |
| Low-set ears | 2.0% | 1/50 |
| Posteriorly rotated ears | 2.0% | 1/50 |
| Prominent ear helix | 2.0% | 1/50 |
| Abnormality of the eye | 25.0% | 13/52 |
| Epicanthus | 3.8% | 2/52 |
| Highly arched eyebrow | 3.8% | 2/52 |
| Long eyelashes | 3.8% | 2/52 |
| Strabismus | 3.8% | 2/52 |
| Upslanted palpebral fissure | 3.8% | 2/52 |
| Bilateral microphthalmos | 1.9% | 1/52 |
| Deeply set eye | 1.9% | 1/52 |
| Hypertelorism | 1.9% | 1/52 |
| Long palpebral fissure | 1.9% | 1/52 |
| Low hanging columella | 1.9% | 1/52 |
| Prominent eyelashes | 1.9% | 1/52 |
| Sparse eyebrow | 1.9% | 1/52 |
| Sparse lateral eyebrow | 1.9% | 1/52 |
| Abnormality of the nose | 19.2% | 10/52 |
| Anteverted nares | 11.5% | 6/52 |
| Short columella | 3.8% | 2/52 |
| Depressed nasal tip | 1.9% | 1/52 |
| Flat nasal alae | 1.9% | 1/52 |
| Short nose | 1.9% | 1/52 |
| Wide nose | 1.9% | 1/52 |
| Abnormality of the mouth | 100.0% | 53/53 |
| Thin upper lip vermilion | 83.0% | 44/53 |
| Wide mouth | 79.2% | 42/53 |
| Downturned corners of mouth | 49.1% | 26/53 |
| High, narrow palate | 3.8% | 2/53 |
| Thin vermilion border | 3.8% | 2/53 |
| Abnormality of mouth size | 1.9% | 1/53 |
| Broad philtrum | 1.9% | 1/53 |
| Delayed eruption of teeth | 1.9% | 1/53 |
| High palate | 1.9% | 1/53 |
| Incisor macrodontia | 1.9% | 1/53 |
| Short philtrum | 1.9% | 1/53 |
| Short lingual frenulum | 1.9% | 1/53 |
| Thick vermilion border | 1.9% | 1/53 |
| Visual and hearing impairments | ||
| Abnormal hearing | 1.8% | 1/55 |
| Hypermetropia | 1.8% | 1/55 |
| Abnormal vision | 60.0% | 27/45 |
| Strabismus | 31.1% | 14/45 |
| Hypermetropia | 28.9% | 13/45 |
| Astigmatism | 15.6% | 7/45 |
| Myopia | 15.6% | 7/45 |
| Amblyopia | 6.7% | 3/45 |
| Nystagmus | 6.7% | 3/45 |
| Esotropia | 4.4% | 2/45 |
| Abnormality of vision | 2.2% | 1/45 |
| Cortical visual impairment | 2.2% | 1/45 |
| Iridocyclitis | 2.2% | 1/45 |
| Retinal detachment | 2.2% | 1/45 |
| Unilateral strabismus | 2.2% | 1/45 |
| Heart | ||
| Abnormality of the heart | 7.5% | 4/53 |
| Bicuspid aortic valve | 1.9% | 1/53 |
| Hypertrophic cardiomyopathy | 1.9% | 1/53 |
| Patent ductus arteriosus | 1.9% | 1/53 |
| Pericardial effusion | 1.9% | 1/53 |
| Ventricular septal defect | 1.9% | 1/53 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 88.2% | 45/51 |
| Constipation | 62.7% | 32/51 |
| Vomiting | 58.8% | 30/51 |
| Gastroesophageal reflux | 37.3% | 19/51 |
| Feeding difficulties | 11.8% | 6/51 |
| Feeding difficulties in infancy | 7.8% | 4/51 |
| Anal fissure | 2.0% | 1/51 |
| Bowel incontinence | 2.0% | 1/51 |
| Poor suck | 2.0% | 1/51 |
| Volvulus | 2.0% | 1/51 |
| Urogenital | ||
| Abnormality of the urogenital system | 26.1% | 12/46 |
| Cryptorchidism | 15.2% | 7/46 |
| Bilateral cryptorchidism | 2.2% | 1/46 |
| Hypoplastic male external genitalia | 2.2% | 1/46 |
| Hypospadias | 2.2% | 1/46 |
| Pyloric stenosis | 2.2% | 1/46 |
| Retractile testis | 2.2% | 1/46 |
| Urinary incontinence | 2.2% | 1/46 |
| Skeleton | ||
| Skeletal abnormalities | 70.6% | 36/51 |
| Small hand | 62.7% | 32/51 |
| Short foot | 56.9% | 29/51 |
| Hyperlordosis | 13.7% | 7/51 |
| Brachydactyly syndrome | 5.9% | 3/51 |
| Broad hallux | 5.9% | 3/51 |
| Broad finger | 3.9% | 2/51 |
| Broad thumb | 3.9% | 2/51 |
| Delayed skeletal maturation | 3.9% | 2/51 |
| Abnormality of the patella | 2.0% | 1/51 |
| Abnormality of the thumb | 2.0% | 1/51 |
| Abnormality of the mandible | 2.0% | 1/51 |
| Abnormality of the distal phalanges of the toes | 2.0% | 1/51 |
| Absent middle phalanx of 5th finger | 2.0% | 1/51 |
| Brachycephaly | 2.0% | 1/51 |
| Broad toe | 2.0% | 1/51 |
| Complete duplication of the distal phalanx of the 5th finger | 2.0% | 1/51 |
| Congenital pseudoarthrosis of the clavicle | 2.0% | 1/51 |
| Delayed ossification of carpal bones | 2.0% | 1/51 |
| Enlarged epiphysis of the distal phalanx of the thumb | 2.0% | 1/51 |
| Exostoses | 2.0% | 1/51 |
| Finger clinodactyly | 2.0% | 1/51 |
| Hallux varus | 2.0% | 1/51 |
| Hyperextensible thumb | 2.0% | 1/51 |
| Hyperextensibility of the finger joints | 2.0% | 1/51 |
| Parietal foramina | 2.0% | 1/51 |
| Partial duplication of the distal phalanx of the hallux | 2.0% | 1/51 |
| Plagiocephaly | 2.0% | 1/51 |
| Prominent metopic ridge | 2.0% | 1/51 |
| Short thumb | 2.0% | 1/51 |
| Short distal phalanx of the thumb | 2.0% | 1/51 |
| Short finger | 2.0% | 1/51 |
| Short 1st metacarpal | 2.0% | 1/51 |
| Short neck | 2.0% | 1/51 |
| Tapered finger | 2.0% | 1/51 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 49.0% | 25/51 |
| Small nail | 31.4% | 16/51 |
| Hypoplastic toenails | 9.8% | 5/51 |
| Abnormality of the toenails | 2.0% | 1/51 |
| Acne | 2.0% | 1/51 |
| Bilateral single transverse palmar creases | 2.0% | 1/51 |
| Dystrophic toenail | 2.0% | 1/51 |
| Hyperhidrosis | 2.0% | 1/51 |
| Hypoplastic fingernail | 2.0% | 1/51 |
| Hypoplastic fifth toenail | 2.0% | 1/51 |
| Numerous nevi | 2.0% | 1/51 |
| Subungual hyperkeratosis | 2.0% | 1/51 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 10.6% | 5/47 |
| Growth hormone deficiency | 10.6% | 5/47 |
| Abnormality of the metabolic system | 3.7% | 2/54 |
| Temperature instability | 3.7% | 2/54 |
| Recurrent hypoglycemia | 1.9% | 1/54 |
| Abnormality of the immune system | 62.2% | 28/45 |
| Recurrent otitis media | 33.3% | 15/45 |
| Recurrent infections | 33.3% | 15/45 |
| Episodic fever | 17.8% | 8/45 |
| Allergy | 2.2% | 1/45 |
| Aspiration pneumonia | 2.2% | 1/45 |
| Bronchiolitis | 2.2% | 1/45 |
| Pneumonia | 2.2% | 1/45 |
| Recurrent candida infections | 2.2% | 1/45 |
| Recurrent urinary tract infections | 2.2% | 1/45 |
| Recurrent Staphylococcus aureus infections | 2.2% | 1/45 |