Phenotype #0000041571

Individual ID 00054904
Associated disease ID
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Phenotype details decelerations, resuscitation; postnatal growth retardation (HP:0008897); delayed gross motor development (HP:0002194); delayed speech and language development (HP:0000750); downslanted palpebral fissures (HP:0000494); deeply-set eye (HP:0000490); prominent forehead (HP:0011220); long philtrum (HP:0000343); low-set ears (HP:0000369); protruding ear (HP:0000411); bifid uvula; thin upper lip (thin upper lip vermilion HP:0000219); pointed chin (HP:0000307); broad upturned nose (anteverted nares HP:0000463); synophrys (HP:0000664); hypertelorism (HP:0000316); sacral dimple (HP:0000960); hirsutism (HP:0001007); chromic otitis media (HP:0000389); constipation (HP:0002019); gastroesophageal reflux (HP:0002020); microcephaly (HP:0000252); generalized hypotonia (HP:0001290); clubfeet; unusual gluteal crease with sacral caudal remnant/sacral dimple (abnormal sacral segmentatino, HP:0008468), prominent protruding coccyx (HP:0008472); talipes cavus equinovarus (HP:0004696); spasticity (HP:0001257); short digit (HP:0011927); short neck (HP:0000470); secundum ASD at birth, enlarged ascending aorta and MPA; intellectual disability (HP:0001249); low set nipples, short stature; not present -HP:0000389; post dates, birth 42w, weight 2840, height 50.8
Age/Examination 09y (9 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2015-12-07 12:50:28 +01:00 (CET)
Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.