Phenotype #0000319361

Individual ID	00428456
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	SBIDDS
Phenotype details	see paper; ..., no intra-uterine growth retardation (-HP:0001511); not small for gestational age (-HP:0001518); normal length at birth; no feeding difficulties (-HP:0008872); no failure to thrive (-HP:0001508); short stature (HP:0004322); obesity (HP:0001513); no microcephaly birth (-HP:0011451); no microcephaly (-HP:0000252); normal skull morphology (-HP:0000929); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); global developmental delay (HP:0001263); moderate intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); normal brain morphology (HP:0012443); abnormality eye (HP:0000478); hearing impairment (HP:0000365); abnormality endocrine system (HP:0000818); no abnormality genitourinary system (-HP:0000119); no abnormality respiratory system (-HP:0002086); hairline, high anterior (HP:0009890); frontal bossing (HP:0002007); forehead, high (HP:0000348); supraorbital ridges, prominent (HP:0000336); prognathism (HP:0000303); chin, tall (HP:0400000); deeply set eyes (HP:0000490); palpebral fissure, upslanted (HP:0000582); anteverted nares (HP:0000463); nasal tip, broad (HP:0000455); nose, prominent (HP:0000448); vermilion, lower lip, everted (HP:0000232); vermilion, lower lip, thick (HP:0000179); finger, short (HP:0009381); finger, tapered (HP:0001182); metacarpal, short (HP:0010049); thumb, broad (HP:0011304); thumb, short (HP:0009778);
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-01-03 19:34:32 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD

AKIRIN1 (akirin 1)

Phenotype #0000319361