Phenotype #0000327840

Individual ID 00437935
Associated disease WITKOS
Diagnosis/Initial hypogonadotropic hypogonadism, Kallman syndrome, congenital myopathy
Diagnosis/Definite Witteveen-Kolk syndrome (OMIM #613406)
Phenotype details Motor delay (HP:0001270), Delayed speech and language development (HP:0000750), Decreased head circumference (HP:0040195), Hypotonia (HP:0001252), Feeding difficulties (HP:0011968), Intellectual disability, mild (HP:0001256), Short stature (HP:0004322), Abnormal facial shape (HP:0001999), Myopathy (HP:0003198), Hypogonadotropic hypogonadism (HP:0000044), Primary amenorrhea (HP:0000786), Hypothyroidism (HP:0000821), Gowers sign (HP:0003391), EMG abnormality (HP:0003457), High forehead (HP:0000348), Pointed chin (HP:0000307), (Small hand HP:0200055), Downslanted palpebral fissures (HP:0000494)
Inheritance Familial, autosomal dominant
Age/Examination 28y (28 years)
Age/Diagnosis 37y
Age/Onset 10y-17y
Phenotype/Onset Primary amenorrhea (HP:0000786), Hypogonadotropic hypogonadism (HP:0000044)
Owner name Robert H Field
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Robert H Field
Date created 2023-10-16 21:38:01 +02:00 (CEST)
Date last edited 2023-10-17 15:54:53 +02:00 (CEST)

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