Phenotype #0000352817
| Individual ID |
00467606 |
| Associated disease |
? |
| Diagnosis/Initial |
Rett syndrome |
| Diagnosis/Definite |
ALAZS |
| Phenotype details |
see paper; ..., severe intellectual disability, no speech; severe growth retardation, disproportionate mild microcephaly; no triangular face; no prominent forehead; narrow/short palpebral fissures; deep-set eyes; sparse eyebrows; no low set ears; no malar hypoplasia; broad nose; short philtrum; wide mouth; full lips; widely spaced teeth/tooth misalignment; scoliosis; hypermobility of distal tips; abnormally set toe(s)/fingers; skeletal anomalies; thickened skin over the hands and feet; cutis marmorata; no anxiety; no self-mutilation of hands; stereotypic behavior including hand wringing; selective eating behavior; seizures; no ocular anomalies; no strabismus; no atrial septal defect; disturbed sleep/sleep apnea episodes |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
26y (26 years) |
| 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 |
2025-10-23 22:00:17 +02:00 (CEST) |
| Date last edited |
N/A |
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