Phenotype #0000170597
| Individual ID |
00225482 |
| Associated disease |
? |
| Diagnosis/Initial |
multisystem disorder |
| Diagnosis/Definite |
- |
| Phenotype details |
delivery c-section; born at term; no polyhydramnios; decreased fetal movements; bradycardia; decreased body weight; microcephaly; coarse facies; midface hypoplasia; hypertelorism; almond-shaped palpebral fissure; no epicanthal folds; ptosis; long eyelashes; no synophrys; ectropion; unusual nose; downturned mouth; macrostomia; macroglossia; full or thick lips; no 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; no dystrophic nails; overlapping toes; distal arthrogryposis / joint laxity; hypoplastic nipples; genital anomaly; hypotonia; bilateral hip dislocation; hip dysplasia; no bilateral coxa valga; abnormal bone density; narrow chest; fibular bowing; no genu valgum; bilateral clubfoot; small feet; no pectus excavatum; scoliosis; recurrent infections; immunodeficiency; rickets; obstructive sleep apnea; ventricular septal defect; patent ductus arteriosus; no hepatosplenomegaly; steatorrhea; chronic diarrhea; no gallstones; no gastrostomy tube; renal abnormalities; severe global developmental delay; no hyperreflexia; reduced tendon reflexes; absent achilles reflex; no behavioral issues; 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 |
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