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19q13.11 microdeletion syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:	Del(19)(q13.11) Monosomy 19q13.11
Number of Symptoms	70
OrphanetNr:	217346
OMIM Id:	613026
ICD-10:	Q93.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	No data available.
Inheritance:	Unknown Not applicable [Orphanet]
Age of onset:	Neonatal Infancy [Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases:

Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
-Rare developmental defect during embryogenesis
-Rare genetic disease
Partial deletion of the long arm of chromosome 19
-Rare developmental defect during embryogenesis
-Rare genetic disease
Rare intellectual deficit with developmental anomaly
-Rare neurologic disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0000048)	Bifid scrotum	Occasional [Orphanet]	36 / 7739
2	(HPO:0000028)	Cryptorchidism		347 / 7739
3	(HPO:0000047)	Hypospadias	Very frequent [Orphanet]	250 / 7739
4	(HPO:0000035)	Abnormality of the testis	Frequent [Orphanet]	296 / 7739
5	(HPO:0000252)	Microcephaly	Very frequent [Orphanet]	832 / 7739
6	(HPO:0000277)	Abnormality of the mandible	Frequent [Orphanet]	394 / 7739
7	(HPO:0010761)	Broad columella	Frequent [Orphanet]	10 / 7739
8	(HPO:0000233)	Thin vermilion border	Frequent [Orphanet]	124 / 7739
9	(HPO:0100840)	Aplasia/Hypoplasia of the eyebrow	Frequent [Orphanet]	117 / 7739
10	(HPO:0000348)	High forehead	Frequent [Orphanet]	157 / 7739
11	(HPO:0000276)	Long face	Frequent [Orphanet]	109 / 7739
12	(HPO:0000278)	Retrognathia		100 / 7739
13	(HPO:0000653)	Sparse eyelashes		58 / 7739
14	(HPO:0200102)	Sparse or absent eyelashes	Frequent [Orphanet]	64 / 7739
15	(HPO:0000154)	Wide mouth	Occasional [Orphanet]	137 / 7739
16	(HPO:0006315)	Single median maxillary incisor	Occasional [Orphanet]	13 / 7739
17	(HPO:0000347)	Micrognathia		426 / 7739
18	(HPO:0000430)	Underdeveloped nasal alae	Frequent [Orphanet]	90 / 7739
19	(HPO:0000535)	Sparse and thin eyebrow		76 / 7739
20	(HPO:0000518)	Cataract	Occasional [Orphanet]	454 / 7739
21	(HPO:0000482)	Microcornea	Occasional [Orphanet]	102 / 7739
22	(HPO:0000369)	Low-set ears		372 / 7739
23	(HPO:0000400)	Macrotia		108 / 7739
24	(HPO:0000365)	Hearing impairment	Occasional [Orphanet]	539 / 7739
25	(HPO:0001249)	Intellectual disability		1089 / 7739
26	(HPO:0001263)	Global developmental delay		853 / 7739
27	(HPO:0002167)	Neurological speech impairment	Very frequent [Orphanet]	308 / 7739
28	(HPO:0006610)	Wide intermamillary distance		46 / 7739
29	(HPO:0002558)	Supernumerary nipple	Frequent [Orphanet]	40 / 7739
30	(HPO:0004404)	Abnormality of the nipple	Frequent [Orphanet]	54 / 7739
31	(HPO:0010743)	Short metatarsal	Frequent [Orphanet]	56 / 7739
32	(HPO:0004209)	Clinodactyly of the 5th finger	Very frequent [Orphanet]	288 / 7739
33	(HPO:0006101)	Finger syndactyly	Frequent [Orphanet]	198 / 7739
34	(HPO:0001845)	Overlapping toe		18 / 7739
35	(HPO:0001770)	Toe syndactyly	Frequent [Orphanet]	149 / 7739
36	(HPO:0001385)	Hip dysplasia	Occasional [Orphanet]	242 / 7739
37	(HPO:0010554)	Cutaneous finger syndactyly		39 / 7739
38	(HPO:0001195)	Single umbilical artery		23 / 7739
39	(HPO:0011968)	Feeding difficulties		240 / 7739
40	(HPO:0008872)	Feeding difficulties in infancy		153 / 7739
41	(HPO:0004325)	Decreased body weight	Very frequent [Orphanet]	492 / 7739
42	(HPO:0001511)	Intrauterine growth retardation	Very frequent [Orphanet]	358 / 7739
43	(HPO:0004326)	Cachexia	Very frequent [Orphanet]	71 / 7739
44	(HPO:0008897)	Postnatal growth retardation		113 / 7739
45	(HPO:0001508)	Failure to thrive		454 / 7739
46	(HPO:0004322)	Short stature		1232 / 7739
47	(HPO:0000963)	Thin skin	Frequent [Orphanet]	96 / 7739
48	(HPO:0000958)	Dry skin	Frequent [Orphanet]	152 / 7739
49	(HPO:0008070)	Sparse hair		94 / 7739
50	(HPO:0002213)	Fine hair	Frequent [Orphanet]	77 / 7739
51	(HPO:0001805)	Thick nail	Frequent [Orphanet]	96 / 7739
52	(HPO:0001006)	Hypotrichosis	Frequent [Orphanet]	219 / 7739
53	(HPO:0002164)	Nail dysplasia		82 / 7739
54	(HPO:0003758)	Reduced subcutaneous adipose tissue		27 / 7739
55	(HPO:0001629)	Ventricular septal defect	Occasional [Orphanet]	316 / 7739
56	(HPO:0030680)	Abnormality of cardiovascular system morphology	Occasional [Orphanet]	355 / 7739
57	(HPO:0003220)	Abnormality of chromosome stability	Very frequent [Orphanet]	98 / 7739
58	(HPO:0002205)	Recurrent respiratory infections	Frequent [Orphanet]	254 / 7739
59	(OMIM)	Cutis aplasia, occipital		1 / 7739
60	(HPO:0003745)	Sporadic		131 / 7739
61	(HPO:0012758)	Neurodevelopmental delay	Very frequent [Orphanet]	949 / 7739
62	(OMIM)	Thin, sparse eyelashes		2 / 7739
63	(OMIM)	Contiguous gene deletion syndrome		23 / 7739
64	(OMIM)	Little or no speech acquisition		1 / 7739
65	(OMIM)	Cytogenetic deletion of chromosome 19q13		1 / 7739
66	(OMIM)	Low-set columella		1 / 7739
67	(OMIM)	Thin, dry skin		2 / 7739
68	(OMIM)	V-shaped nasal tip		1 / 7739
69	(OMIM)	Slender habitus		1 / 7739
70	(OMIM)	Long, tapering digits		1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Kulharya et al. (1998) reported a 3-year-old girl with a constitutional del(19)(q12q13.1) deletion ascertained in utero after intrauterine growth retardation and decreased fetal activity. She was born at 38 weeks' gestation with single umbilical artery, hypotonia, and little ... Kulharya et al. (1998) reported a 3-year-old girl with a constitutional del(19)(q12q13.1) deletion ascertained in utero after intrauterine growth retardation and decreased fetal activity. She was born at 38 weeks' gestation with single umbilical artery, hypotonia, and little subcutaneous fat. Minor facial anomalies included micrognathia, posteriorly angulated and apparently low-set ears, hypertelorism, broad nasal root, and high-arched palate. Other features included cutis aplasia of the posterior fontanel, fifth finger clinodactyly, overlapping toes, and congenital right hip dislocation. She had poor suck and feeding, requiring gastrostomy tube. There was also congenital deafness, cardiomegaly, and increased liver enzymes. At age 3 years, she could not sit on her own and had no speech development. Using array comparative genomic hybridization (CGH), Malan et al. (2009) identified 3 unrelated patients with syndromic mental retardation associated with interstitial microdeletions involving chromosome 19q13.11. All 3 patients shared common clinical features, including pre- and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, developmental delay, poor speech development, microcephaly, and hypospadias. Each also had signs of ectodermal dysplasia, such as thin, sparse hair and eyebrows, dysplastic nails, and cutis aplasia over the posterior occiput. Facial dysmorphism included long face, high forehead, retrognathia, thin lips, V-shaped nose with hypoplastic nasal alae, and large ears. More variable features included widely-spaced nipples, long tapered fingers, single-median incisor, and single umbilical artery. Schuurs-Hoeijmakers et al. (2009) reported another patient with a chromosome 19q13.11 deletion. The male proband was a dizygotic twin, and his twin sister was normal. At birth, the proband was noted to have cutis aplasia over the posterior occiput, hypospadias, abnormal positioning of the feet, and a third nipple on the left side of the chest, the latter of which was also present in the father. He had feeding difficulties, failure to thrive, and psychomotor delay in the first year of life. Dysmorphic features included deep-set eyes, a broad nasal tip, a broad mouth with thin lips, broad gums, irregular placed teeth, and retrognathia. Other features included long fingers with slender thumbs, dysplastic nails, a sacral dimple, and hyperlaxity of the joints. Schuurs-Hoeijmakers et al. (2009) noted the phenotypic similarities to the patients reported by Malan et al. (2009).

Symptoms & Signs

	Field	Query
	Disease
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