Phenotype #0000155171

Individual ID 00207400
Associated disease HPMRS4;GPIBD10
Phenotype details Dysmorphic features (tented thin upper lip, broad nasal bridge, hypertelorism, large fleshy ear lobes, short upturned nose, cleft palate, upslanted palpebral fissures, long philtrum, brachycephaly, large anterior fontanel size), Postnatal microcephaly, Short stature, Neurological abnormalities (global DD, Hypotonia), Brain abnormalities (thin/dysgenetic corpus callosum, mild ventriculomegaly, frontoparietal atrophy), Dysphagia, CVS Anomalies (patent foramen ovale (PFO)), Extremity abnormalities (brittle/hypoplastic nails, thin/sparse hair), Others (inguinal hernia, intestinal malrotation, ear pit nystagmus), ALP levels (672-837 U/L).
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 00y00m54d (54 days)
Age/Diagnosis -
Age/Onset 00y00m00d
Phenotype/Onset -
Protein -
Owner name Philippe Campeau
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Philippe Campeau