Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000281596 Individual ID 00387998 Associated disease RNS Phenotype details HP:0000453, HP:0000377, HP:0000212, HP:0005280, HP:0000218, HP:0000695, HP:0000248, HP:0000270, HP:0000463, HP:0008501; abnormal 32-week scan with clover-leaf skull, non-ossified nasal bone, midface hypoplasia, bulging eyelids and irregular contour of long bones; born at full-term, Apgar score 9/10, birth-weight 2900 g; noisy breathing, feeding difficulties due to right-sided choanal atresia, vital parameters and oxygen-saturation stable; weight 2.75 kg (Z 0 to -2), length 46 cm (Z 0 to -2), OFC32.5 cm (Z -1 to -2); osteopetrosis Diagnosis/Initial osteosclerosis, poor cortico-medullary-differentiation and microfractures left femur and fibula Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 00y00m21d (21 days) Age/Diagnosis 00y00m21d Age/Onset - Phenotype/Onset - Protein - Owner name Wei-Hong Lai Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Wei-Hong Lai Date created 2021-11-01 17:43:57 +01:00 (CET) Date last edited 2021-11-01 18:22:31 +01:00 (CET)

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