Phenotype #0000036696

Individual ID 00004128
Associated disease CSS
Diagnosis/Initial -
Diagnosis/Definite CSS
Phenotype details brith 38w, weight 2340 g (SD -1.9), OFC 30.5 cm (SD -1.8); birth length length 45cm(-2.2); 5m-head, 11m-sit, 1y11m-walk; speak 1y7m; developmental delay, microcephaly; absent/hypoplastic fifth finger/toenails, hypertrichosis, abnormal/delayed dentition; mid facial hypoplasia, thick lips, everted lower lip, abnormal ears, high palate, ptosis, short philtrum; clinodactyly, short stature, sucking problems; small left kidney; generalized hypotonia; feeding problems esp. neonatal period; seizures (HP:0001250); prenatal growth retardation (HP:0001511); abnormal vision (HP:0000504); highly arched eyebrow (HP:0002553); long eyelashes (HP:0000527); flat (depressed/low) nasal bridge (HP:0005280); ;
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license No license selected
Created by Johan den Dunnen