Phenotype #0000301254

Individual ID 00409138
Associated disease FLPIS;SDTY1
Phenotype details no premature birth (-HP:0001622), intrauterine growth retardation (HP:0001511), small for gestational age (HP:0001518), short stature (HP:0004322), microcephaly (HP:0000252), intellectual disability (HP:0001249), delayed speech and language development (HP:0000750), no seizure (-HP:0001250), no prominent nasal bridge (-HP:0000426), underdeveloped nasal alae (HP:0000430), 3-4 finger syndactyly (HP:0006097), 2-4 toe syndactyly (HP:0010714), no short digit (-HP:0011927), no clinodactyly (-HP:0030084), cryptorchidism (HP:0000028), telecanthus (HP:0000506)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Filippi syndrome, FLPIS
Age/Examination 02y10m (2 years, 10 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset intrauterine growth retardation (HP:0001511)
Protein -
Owner name Hasan Bas
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Hasan Bas
Date created 2022-05-03 16:06:07 +02:00 (CEST)
Date last edited 2022-05-03 16:46:09 +02:00 (CEST)

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