| Individual ID |
00225483 |
| Associated disease |
? |
| Diagnosis/Initial |
multisystem disorder |
| Diagnosis/Definite |
- |
| Phenotype details |
delivery c-section; born at term; no polyhydramnios; respiratory distress; decreased fetal movements; no bradycardia; birth weight <3rd; decreased body weight; microcephaly; coarse facies; midface hypoplasia; hypertelorism; no almond-shaped palpebral fissure; epicanthal folds; ptosis; no long eyelashes; synophrys; no; unusual nose; downturned mouth; wide mouth; macroglossia; full or thick lips; dental abnormalities; high arched palate; ear abnormalities; bilateral otitis media; bitemporal narrowing; brachycephaly; plagiocephaly; pruritus; unusual hair; thoracic hypertrichosis; fifth digit hypoplasia and/or clinodactyly; dystrophic nails; overlapping toes; distal arthrogryposis / joint laxity; hypoplastic nipples; no genital anomaly; hypotonia; no narrow chest; no fibular bowing; genu valgum; no bilateral clubfoot; small feet; no pectus excavatum; scoliosis; no hyperopia; no astigmatism; cortical visual impairment; recurrent infections; immunodeficiency; hypothyroidism; rickets; obstructive sleep apnea; central sleep apnea; no ventricular septal defect; no patent ductus arteriosus; hepatosplenomegaly; liver dysfunction; no recurrent pancreatitis; no exocrine pancreatic insufficiency; gastresophageal reflux; no steatorrhea; no chronic diarrhea; no gallstones; gastrostomy tube; elevated bile acids; no renal abnormalities; severe global developmental delay; hyperreflexia; no reduced tendon reflexes; no absent achilles reflex; behavioral issues; seizures; EEG abnormalities; no abnormal ventricle morphology; no abnormal corpus callosum; cerebral atrophy; no white matter abnormalities; no cerebellar hypoplasia |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Tumor/MSI |
- |
| Diagnosis/Criteria |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2019-02-17 11:19:47 +01:00 (CET) |
| Date last edited |
N/A |
