Phenotype #0000061487

Individual ID 00081828
Associated disease MCCRP2
Phenotype details Intellectual disability, severe (HP:0010864)
Absent speech (HP:0001344)
Sloping forehead (HP:0000340)
Prominent metopic ridge (HP:0005487)
Upslanted palpebral fissure (HP:0000582)
Blepharophimosis (HP:0000581)
Epicanthus (HP:0000286)
Macrotia (HP:0000400)
Prominent nose (HP:0000448)
Thin upper lip vermilion (HP:0000219)
High arched palate (HP:0002705)
Micrognathia (HP:0000347)
Clinodactyly of the 5th finger (HP:0004209)
Delayed skeletal maturation (HP:0002750)
Hypoplasia of the radius (HP:0002984)
Epiphysiolysis in distal femur (HP:0006461)
Microcephaly (HP:0000252)
Cortical gyral simplification (HP:0009879)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis 00y09m
Age/Onset 00y09m?
Phenotype/Onset 9m
Protein -
Owner name Bayram Toraman
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by Bayram Toraman
Date created 2016-10-28 14:15:32 +02:00 (CEST)
Date last edited 2016-11-08 23:14:23 +01:00 (CET)

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