Phenotype #0000301313
| Individual ID |
00409195 |
| Associated disease |
FLPIS;SDTY1 |
| Phenotype details |
short stature (HP:0004322), microcephaly (HP:0000252), decreased body weight (HP:0004325), intellectual disability (HP:0001249), no seizure (-HP:0001250), prominent nasal bridge (HP:0000426), underdeveloped nasal alae (HP:0000430), low hanging columella (HP:0009765), 3-4 finger syndactyly (HP:0006097), 2-4 finger syndactyly (HP:0010709), 2-4 toe syndactyly (HP:0010714), 2-4 toe syndactyly (HP:0010714), short 5th finger (HP:0009237), short 5th toe (HP:0011917), no clinodactyly (-HP:0030084), no telecanthus (-HP:0000506), hypotelorism (HP:0000601), no broad forehead (-HP:0000337), frontal hirsutism (HP:0011335), short philtrum (HP:0000322), thin upper lip vermilion (HP:0000219), microdontia (HP:0000691), abnormal incisor morphology (HP:0011063), irregular menstruation (HP:0000858), no hypertrichosis (-HP:0000998), violent behavior (HP:0008760), aggressive behavior (HP:0000718), sleep disturbance (HP:0002360), abnormal social behavior (HP:0012433), talipes (HP:0001883), retrognathia (HP:0000278), hypermelanotic macule (HP:0001034) |
| Diagnosis/Initial |
Filippi syndrome |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
Filippi syndrome, FLPIS |
| Age/Examination |
14y01m (14 years, 1 month) |
| Age/Diagnosis |
14y03m |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Hasan Bas |
| Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
| Created by |
Hasan Bas |
| Date created |
2022-05-03 23:18:53 +02:00 (CEST) |
| Date last edited |
2022-11-14 14:29:49 +01:00 (CET) |
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