| Diseases | Rating | Bibliogr. | Expand |
---|
1 | Mental Retardation, X-Linked | 100 | + + | |
2 | Intellectual Disability | 39 | + + | |
3 | Genetic Diseases, X-Linked | 18 | + + | |
4 | Syndrome | 16 | + + | |
5 | Abnormalities, Multiple | 11 | + + | |
6 | Sex Chromosome Aberrations | 10 | + + | |
7 | Microcephaly | 9 | + + | |
8 | Growth Disorders | 8 | + + | |
9 | Facies | 8 | + + | |
10 | Coffin-Lowry Syndrome | 7 | + + | |
11 | Fragile X Syndrome | 6 | + + | |
12 | Rett Syndrome | 6 | + + | |
13 | Ichthyosis, X-Linked | 6 | + + | |
14 | Muscle Hypotonia | 6 | + + | |
15 | Developmental Disabilities | 5 | + + | |
16 | Fetal Growth Retardation | 5 | + + | |
17 | Thinness | 5 | + + | |
18 | Chromosome Deletion | 4 | + + | |
19 | Hypogonadism | 4 | + + | |
20 | Chromosome Fragility | 4 | + + | |
21 | Marfan Syndrome | 3 | + + | |
22 | Chromosome Aberrations | 3 | + + | |
23 | Craniofacial Abnormalities | 3 | + + | |
24 | Epilepsy | 3 | + + | |
25 | Chromosome Disorders | 3 | + + | |
26 | Psychomotor Disorders | 3 | + + | |
27 | Dwarfism | 3 | + + | |
28 | Autistic Disorder | 3 | + + | |
29 | Hand Deformities, Congenital | 2 | + + | |
30 | Agammaglobulinemia | 2 | + + | |
31 | Ichthyosis | 2 | + + | |
32 | Deafness | 2 | + + | |
33 | Trisomy | 2 | + + | |
34 | Language Development Disorders | 2 | + + | |
35 | Cleft Palate | 2 | + + | |
36 | Chromosome Breakage | 2 | + + | |
37 | X-Linked Combined Immunodeficiency Diseases | 2 | + + | |
38 | Translocation, Genetic | 2 | + + | |
39 | Syndactyly | 2 | + + | |
40 | Agenesis of Corpus Callosum | 2 | + + | |
41 | Hypertelorism | 2 | + + | |
42 | Foot Deformities, Congenital | 2 | + + | |
43 | Seizures | 2 | + + | |
44 | Skin Abnormalities | 2 | + + | |
45 | Eye Abnormalities | 1 | + + | |
46 | Tooth Abnormalities | 1 | + + | |
47 | Oculocerebrorenal Syndrome | 1 | + + | |
48 | Obesity | 1 | + + | |
49 | Chondrodysplasia Punctata | 1 | + + | |
50 | Ring Chromosomes | 1 | + + | |
51 | Adrenoleukodystrophy | 1 | + + | |
52 | Coloboma | 1 | + + | |
53 | Cataract | 1 | + + | |
54 | Spasms, Infantile | 1 | + + | |
55 | Genetic Predisposition to Disease | 1 | + + | |
56 | Speech Disorders | 1 | + + | |
57 | Rubinstein-Taybi Syndrome | 1 | + + | |
58 | Bone Diseases, Developmental | 1 | + + | |
59 | Muscular Dystrophies | 1 | + + | |
60 | Granulomatous Disease, Chronic | 1 | + + | |
61 | Nails, Malformed | 1 | + + | |
62 | Retinoschisis | 1 | + + | |
63 | Limb Deformities, Congenital | 1 | + + | |
64 | Blepharophimosis | 1 | + + | |
65 | Hyperkinesis | 1 | + + | |
66 | Anophthalmos | 1 | + + | |
67 | Ectodermal Dysplasia | 1 | + + | |
68 | Congenital Abnormalities | 1 | + + | |
69 | Ataxia | 1 | + + | |
70 | Heart Defects, Congenital | 1 | + + | |
71 | Microphthalmos | 1 | + + | |
72 | Alopecia | 1 | + + | |
73 | Cleft Lip | 1 | + + | |
74 | Chromosome Inversion | 1 | + + | |
75 | Sjogren-Larsson Syndrome | 1 | + + | |
76 | Sex Chromosome Disorders | 1 | + + | |
77 | Cerebellar Ataxia | 1 | + + | |
78 | Retinitis Pigmentosa | 1 | + + | |
79 | Chromosome Duplication | 1 | + + | |
80 | Stereotypic Movement Disorder | 1 | + + | |
81 | Polydactyly | 1 | + + | |
82 | Mental Disorders | 1 | + + | |
83 | Failure to Thrive | 1 | + + | |
84 | Hypertrichosis | 1 | + + | |
85 | Aniridia | 1 | + + | |
86 | Malformations of Cortical Development | 1 | + + | |
87 | Pigmentation Disorders | 1 | + + | |
88 | Cerebral Palsy | 1 | + + | |
89 | Monosomy | 1 | + + | |
90 | Craniosynostoses | 1 | + + | |
91 | Muscle Spasticity | 1 | + + | |
92 | Lesch-Nyhan Syndrome | 1 | + + | |
93 | Prader-Willi Syndrome | 1 | + + | |
94 | Mouth Abnormalities | 1 | + + | |
95 | Kallmann Syndrome | 1 | + + | |
96 | WAGR Syndrome | 1 | + + | |
97 | Hyperventilation | 1 | + + | |
98 | Williams Syndrome | 1 | + + | |
99 | Puberty, Delayed | 1 | + + | |
100 | alpha-Thalassemia | 1 | + + | |
101 | Laurence-Moon Syndrome | 1 | + + | |
102 | Smith-Lemli-Opitz Syndrome | 1 | + + | |
103 | Nervous System Malformations | 1 | + + | |
104 | Albinism, Ocular | 1 | + + | |
105 | Hydrocephalus | 1 | + + | |
106 | Amino Acid Metabolism, Inborn Errors | 1 | + + | |
107 | Aneuploidy | 1 | + + | |
108 | Child Behavior Disorders | 1 | + + | |
109 | Myopathies, Structural, Congenital | 1 | + + | |
110 | Angelman Syndrome | 1 | + + | |
111 | Atrophy | 1 | + + | |
112 | Diseases in Twins | 1 | + + | |
113 | Glycogen Storage Disease Type IIb | 1 | + + | |