Phenotype #0000267889

Individual ID 00372576
Associated disease NDD
Diagnosis/Initial Ritscher-Schinzel syndrome
Diagnosis/Definite -
Phenotype details see paper; ..., birth 37w, length 51 cm/90th, weight 3,100 g/75th, OFC 34.8 cm/90th; OFC +3.9 SD hydrocephaly; delayed development; hypotonia; no absent speech; no swallowing difficulties; no seizures; no corpus callosum agenesis; cerebellar hypoplasia; hydrocephaly; short stature; no scoliosis; 11 pairs of ribs, foramina parietalia, large fontanelles; atrio-ventricular canal; slightly gaping vulva; ocular hypertelorism, downslanting palpebral fissures, depressed nasal bridge, apparently low-set ears, narrow palate
Inheritance Unknown
Age/Examination 3y6m (3 years, 6 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-05-10 09:29:40 +02:00 (CEST)
Date last edited N/A

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