Phenotype #0000038645

Individual ID 00048047
Associated disease CSS
Diagnosis/Initial -
Diagnosis/Definite CSS
Phenotype details birth height SD -4.8, weight SD 0.7, OFC SD -2.5; spherophakia; no hypotonia; seizures (HP:0001250); hearing abnormality (HP:0000364); no speech (HP:0001344); severe intellectual disability; normal scalp hair (-HP:0100037); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); no ptosis (-HP:0000520); broad nasal bridge (HP:0000431); long philtrum (HP:0000343); no cleft palate (-HP:0000175); hypertrichosis (HP:0000998); small nails (HP:0001792); no prominent interphalangeal joints (-HP:0006237); hypoplastic phalanges 5th finger; no gastro-esophoegal reflux (-HP:0002020); Dex, pulmonary artery stenosis; kidney abnormality (HP:0000077); agenesis corpus callosum (HP:0001274); pyloric stenosis (HP:0002021); myopia (HP:0000545);
Inheritance Unknown
Age/Examination 06y (6 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Eline van der Sluijs
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Eline van der Sluijs