48,XXYY syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: 48,XXYY
Number of Symptoms 133
OrphanetNr: 10
OMIM Id:
ICD-10: Q98.8
UMLs: C2936741
MeSH: D007713
MedDRA: 10048230
Snomed: 403760006

Prevalence, inheritance and age of onset:

Prevalence: 1.9 [Orphanet]
Inheritance:
[Orphanet]
Age of onset: Neonatal
Infancy
Childhood
Adolescent
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Sex chromosome disorder of sex development
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
 -Rare urogenital disease
Syndromic urogenital tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare urogenital disease
X and Y chromosomal anomaly
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0012646) Retractile testis Occasional [Orphanet] 8 / 7739
2
 (HPO:0008736) Hypoplasia of penis Occasional [Orphanet] 7 / 7739
3
 (HPO:0008689) Bilateral cryptorchidism Occasional [Orphanet] occasional [HPO] 38 / 7739
4
 (HPO:0000054) Micropenis Occasional [Orphanet] 257 / 7739
5
 (HPO:0000798) Oligospermia Very frequent [Orphanet] 13 / 7739
6
 (HPO:0000135) Hypogonadism Very frequent [Orphanet] 89 / 7739
7
 (HPO:0000144) Decreased fertility Very frequent [Orphanet] 11 / 7739
8
 (HPO:0008734) Decreased testicular size Very frequent [Orphanet] 105 / 7739
9
 (HPO:0000025) Functional abnormality of male internal genitalia Very frequent [Orphanet] 2 / 7739
10
 (HPO:0000027) Azoospermia Very frequent [Orphanet] 28 / 7739
11
 (HPO:0000789) Infertility Very frequent [Orphanet] 74 / 7739
12
 (HPO:0000028) Cryptorchidism Occasional [Orphanet] 347 / 7739
13
 (HPO:0000582) Upslanted palpebral fissure Frequent [Orphanet] 185 / 7739
14
 (HPO:0000682) Abnormality of dental enamel Frequent [Orphanet] 102 / 7739
15
 (HPO:0000176) Submucous cleft hard palate Occasional [Orphanet] 19 / 7739
16
 (HPO:0011331) Hemifacial atrophy Occasional [Orphanet] 79 / 7739
17
 (HPO:0005323) Hemifacial hypertrophy Occasional [Orphanet] 3 / 7739
18
 (HPO:0000276) Long face Occasional [Orphanet] 109 / 7739
19
 (HPO:0000185) Cleft soft palate Occasional [Orphanet] 18 / 7739
20
 (HPO:0000248) Brachycephaly Frequent [Orphanet] 222 / 7739
21
 (HPO:0000215) Thick upper lip vermilion Frequent [Orphanet] 17 / 7739
22
 (HPO:0000684) Delayed eruption of teeth Frequent [Orphanet] 117 / 7739
23
 (HPO:0000275) Narrow face Occasional [Orphanet] occasional [HPO] 76 / 7739
24
 (HPO:0000193) Bifid uvula Occasional [Orphanet] 66 / 7739
25
 (HPO:0000679) Taurodontia Frequent [Orphanet] 27 / 7739
26
 (HPO:0010807) Open bite Frequent [Orphanet] typical [HPO] 6 / 7739
27
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
28
 (HPO:0005469) Flat occiput Frequent [Orphanet] 30 / 7739
29
 (HPO:0000179) Thick lower lip vermilion Frequent [Orphanet] 72 / 7739
30
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
31
 (HPO:0000324) Facial asymmetry Occasional [Orphanet] 57 / 7739
32
 (HPO:0000175) Cleft palate Occasional [Orphanet] 349 / 7739
33
 (HPO:0000670) Carious teeth Frequent [Orphanet] 145 / 7739
34
 (HPO:0002648) Abnormality of calvarial morphology Frequent [Orphanet] 2 / 7739
35
 (HPO:0000581) Blepharophimosis Frequent [Orphanet] 197 / 7739
36
 (HPO:0000689) Dental malocclusion Frequent [Orphanet] 114 / 7739
37
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
38
 (HPO:0011819) Submucous cleft soft palate Occasional [Orphanet] 12 / 7739
39
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
40
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
41
 (HPO:0000388) Otitis media Frequent [Orphanet] 28 / 7739
42
 (HPO:0000389) Chronic otitis media Frequent [Orphanet] 64 / 7739
43
 (HPO:0002321) Vertigo Occasional [Orphanet] 58 / 7739
44
 (HPO:0002133) Status epilepticus Occasional [Orphanet] 59 / 7739
45
 (HPO:0000716) Depression Frequent [Orphanet] 99 / 7739
46
 (HPO:0002015) Dysphagia Frequent [Orphanet] 301 / 7739
47
 (HPO:0011147) Typical absence seizures Occasional [Orphanet] 33 / 7739
48
 (HPO:0002141) Gait imbalance Occasional [Orphanet] 55 / 7739
49
 (HPO:0001618) Dysphonia Occasional [Orphanet] 28 / 7739
50
 (HPO:0100753) Schizophrenia Occasional [Orphanet] 20 / 7739
51
 (HPO:0002311) Incoordination Occasional [Orphanet] 84 / 7739
52
 (HPO:0100543) Cognitive impairment Very frequent [Orphanet] 230 / 7739
53
 (HPO:0001260) Dysarthria Occasional [Orphanet] 329 / 7739
54
 (HPO:0001337) Tremor Frequent [Orphanet] 200 / 7739
55
 (HPO:0001328) Specific learning disability Very frequent [Orphanet] 114 / 7739
56
 (HPO:0010536) Central sleep apnea Occasional [Orphanet] 4 / 7739
57
 (HPO:0002381) Aphasia Very frequent [Orphanet] 27 / 7739
58
 (HPO:0001249) Intellectual disability Very frequent [Orphanet] 1089 / 7739
59
 (HPO:0007302) Bipolar affective disorder Occasional [Orphanet] 15 / 7739
60
 (HPO:0002066) Gait ataxia Occasional [Orphanet] occasional [HPO] 327 / 7739
61
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
62
 (HPO:0001270) Motor delay Very frequent [Orphanet] 322 / 7739
63
 (HPO:0010529) Echolalia Very frequent [Orphanet] 20 / 7739
64
 (HPO:0010535) Sleep apnea Occasional [Orphanet] 24 / 7739
65
 (HPO:0002121) Absence seizures Occasional [Orphanet] 62 / 7739
66
 (HPO:0002357) Dysphasia Very frequent [Orphanet] 33 / 7739
67
 (HPO:0100033) Tics Occasional [Orphanet] 6 / 7739
68
 (HPO:0011097) Epileptic spasms Occasional [Orphanet] 45 / 7739
69
 (HPO:0000737) Irritability Frequent [Orphanet] 93 / 7739
70
 (HPO:0007018) Attention deficit hyperactivity disorder Frequent [Orphanet] 56 / 7739
71
 (HPO:0001251) Ataxia Occasional [Orphanet] occasional [HPO] 413 / 7739
72
 (HPO:0001263) Global developmental delay Very frequent [Orphanet] 853 / 7739
73
 (HPO:0000717) Autism Occasional [Orphanet] 108 / 7739
74
 (HPO:0000752) Hyperactivity Frequent [Orphanet] 140 / 7739
75
 (HPO:0002167) Neurological speech impairment Occasional [Orphanet] 308 / 7739
76
 (HPO:0000739) Anxiety Frequent [Orphanet] 67 / 7739
77
 (HPO:0000709) Psychosis Occasional [Orphanet] 61 / 7739
78
 (HPO:0000733) Stereotypy Occasional [Orphanet] 58 / 7739
79
 (HPO:0002300) Mutism Very frequent [Orphanet] 28 / 7739
80
 (HPO:0000741) Apathy Frequent [Orphanet] 42 / 7739
81
 (HPO:0010313) Breast hypertrophy Frequent [Orphanet] 6 / 7739
82
 (HPO:0000771) Gynecomastia Frequent [Orphanet] 53 / 7739
83
 (HPO:0000823) Delayed puberty Very frequent [Orphanet] 65 / 7739
84
 (HPO:0005978) Type II diabetes mellitus Occasional [Orphanet] 68 / 7739
85
 (HPO:0003272) Abnormality of the hip bone Occasional [Orphanet] 3 / 7739
86
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
87
 (HPO:0001883) Talipes Occasional [Orphanet] 12 / 7739
88
 (HPO:0001388) Joint laxity Frequent [Orphanet] typical [HPO] 117 / 7739
89
 (HPO:0005037) Proximal radio-ulnar synostosis Frequent [Orphanet] typical [HPO] 6 / 7739
90
 (HPO:0001763) Pes planus Frequent [Orphanet] 176 / 7739
91
 (HPO:0002673) Coxa valga Occasional [Orphanet] 57 / 7739
92
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
93
 (HPO:0002827) Hip dislocation Occasional [Orphanet] 94 / 7739
94
 (HPO:0010665) Bilateral coxa valga Occasional [Orphanet] 4 / 7739
95
 (HPO:0002974) Radioulnar synostosis Frequent [Orphanet] 52 / 7739
96
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
97
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
98
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
99
 (HPO:0005743) Avascular necrosis of the capital femoral epiphysis Occasional [Orphanet] 17 / 7739
100
 (HPO:0000774) Narrow chest Frequent [Orphanet] 167 / 7739
101
 (HPO:0003043) Abnormality of the shoulder Frequent [Orphanet] 2 / 7739
102
 (HPO:0003042) Elbow dislocation Frequent [Orphanet] 89 / 7739
103
 (HPO:0200021) Down-sloping shoulders Frequent [Orphanet] 18 / 7739
104
 (HPO:0002812) Coxa vara Occasional [Orphanet] 58 / 7739
105
 (HPO:0005021) Bilateral elbow dislocations Frequent [Orphanet] typical [HPO] 24 / 7739
106
 (HPO:0005692) Joint hyperflexibility Frequent [Orphanet] typical [HPO] 20 / 7739
107
 (HPO:0001840) Metatarsus adductus Occasional [Orphanet] 49 / 7739
108
 (HPO:0004696) Talipes cavus equinovarus Occasional [Orphanet] 13 / 7739
109
 (HPO:0011431) Fetal fifth finger clinodactyly Frequent [Orphanet] typical [HPO] 14 / 7739
110
 (HPO:0002033) Poor suck Frequent [Orphanet] 37 / 7739
111
 (HPO:0002578) Gastroparesis Occasional [Orphanet] 11 / 7739
112
 (HPO:0000023) Inguinal hernia Occasional [Orphanet] 181 / 7739
113
 (HPO:0002019) Constipation Frequent [Orphanet] 194 / 7739
114
 (HPO:0100541) Femoral hernia Occasional [Orphanet] 7 / 7739
115
 (HPO:0008872) Feeding difficulties in infancy Frequent [Orphanet] 153 / 7739
116
 (HPO:0100633) Esophagitis Occasional [Orphanet] 7 / 7739
117
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
118
 (HPO:0002020) Gastroesophageal reflux Occasional [Orphanet] 101 / 7739
119
 (HPO:0002036) Hiatus hernia Occasional [Orphanet] 24 / 7739
120
 (HPO:0001548) Overgrowth Frequent [Orphanet] 27 / 7739
121
 (HPO:0000098) Tall stature Frequent [Orphanet] 74 / 7739
122
 (HPO:0001513) Obesity Frequent [Orphanet] 172 / 7739
123
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
124
 (HPO:0002665) Lymphoma Occasional [Orphanet] 60 / 7739
125
 (HPO:0005526) Lymphoid leukemia Occasional [Orphanet] occasional [HPO] 4 / 7739
126
 (HPO:0002205) Recurrent respiratory infections Frequent [Orphanet] 254 / 7739
127
 (HPO:0002099) Asthma Frequent [Orphanet] 62 / 7739
128
 (HPO:0011947) Respiratory tract infection Frequent [Orphanet] typical [HPO] 28 / 7739
129
 (HPO:0002104) Apnea Occasional [Orphanet] 106 / 7739
130
 (HPO:0001324) Muscle weakness Frequent [Orphanet] typical [HPO] 859 / 7739
131
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
132
 (Orphanet:3740) Enlargment of jaw/large jaw Occasional [Orphanet] 3 / 7739
133
 (HPO:0002119) Ventriculomegaly Occasional [Orphanet] 253 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: