Phenotype #0000230366

Individual ID	00303257
Associated disease	MFDGA;MFDM
Diagnosis/Initial	Cleft Palate, Pierre Robin Sequence
Diagnosis/Definite	MFDGA
Phenotype details	Hypoplasia of the maxilla (HP:0000327) Feeding difficulties HP:0011968 Preauricular skin tag HP:0000384 Mandibulofacial dysostosis HP:0005321 Postnatal microcephaly HP:0005484 Cleft palate HP:0000175 Hypertelorism HP:0000316 Facial Hemangioma: HP:0000329 Microretrognathia- HP:0000308 Underdeveloped Supraorbital ridges HP:0009891 Sloping forehead HP:0000340 Facial Asymmetry HP: 0000324 Clinodactyly of the 5th toe (B/L) HP0001864 Overlapping toes (B/L): HP:0001845 Cup, Simplified Ear (R only) HP:0000378; no seizures
Inheritance	Isolated (sporadic)
Age/Examination	00y02m (2 months)
Age/Onset	00y00m
Phenotype/Onset	0m
Age/Diagnosis	00y04m
Birth_Details	39w4d, Vaginal Delivery, Apgars 9/9, 1 week NICU stay for cleft palate and poor feeding; Wt: 2.91 kg (10-25th) Lt: 50 cm (50th), FOC: 33 cm (25th)
Height-Weight-OFC	Weight: 4.4kg (10-25th percentile) Length: 56.1cm (50th percentile) Head circumference: 36cm (3rd percentile)
Protein	-
Owner name	Kate Mowrey
Database submission license	No license selected
Created by	Kate Mowrey
Date created	2020-06-09 15:17:10 +02:00 (CEST)
Date last edited	2025-03-08 16:47:50 +01:00 (CET)

Global Variome shared LOVD