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Symptoms:

    


DiseasesRatingBibliogr.Expand
1Mental Retardation, X-Linked100+ 
2Intellectual Disability39+ 
3Genetic Diseases, X-Linked18+ 
4Syndrome16+ 
5Abnormalities, Multiple11+ 
6Sex Chromosome Aberrations10+ 
7Microcephaly9+ 
8Growth Disorders8+ 
9Facies8+ 
10Coffin-Lowry Syndrome7+ 
11Fragile X Syndrome6+ 
12Rett Syndrome6+ 
13Ichthyosis, X-Linked6+ 
14Muscle Hypotonia6+ 
15Developmental Disabilities5+ 
16Fetal Growth Retardation5+ 
17Thinness5+ 
18Chromosome Deletion4+ 
19Hypogonadism4+ 
20Chromosome Fragility4+ 
21Marfan Syndrome3+ 
22Chromosome Aberrations3+ 
23Craniofacial Abnormalities3+ 
24Epilepsy3+ 
25Chromosome Disorders3+ 
26Psychomotor Disorders3+ 
27Dwarfism3+ 
28Autistic Disorder3+ 
29Hand Deformities, Congenital2+ 
30Agammaglobulinemia2+ 
31Ichthyosis2+ 
32Deafness2+ 
33Trisomy2+ 
34Language Development Disorders2+ 
35Cleft Palate2+ 
36Chromosome Breakage2+ 
37X-Linked Combined Immunodeficiency Diseases2+ 
38Translocation, Genetic2+ 
39Syndactyly2+ 
40Agenesis of Corpus Callosum2+ 
41Hypertelorism2+ 
42Foot Deformities, Congenital2+ 
43Seizures2+ 
44Skin Abnormalities2+ 
45Eye Abnormalities1+ 
46Tooth Abnormalities1+ 
47Oculocerebrorenal Syndrome1+ 
48Obesity1+ 
49Chondrodysplasia Punctata1+ 
50Ring Chromosomes1+ 
51Adrenoleukodystrophy1+ 
52Coloboma1+ 
53Cataract1+ 
54Spasms, Infantile1+ 
55Genetic Predisposition to Disease1+ 
56Speech Disorders1+ 
57Rubinstein-Taybi Syndrome1+ 
58Bone Diseases, Developmental1+ 
59Muscular Dystrophies1+ 
60Granulomatous Disease, Chronic1+ 
61Nails, Malformed1+ 
62Retinoschisis1+ 
63Limb Deformities, Congenital1+ 
64Blepharophimosis1+ 
65Hyperkinesis1+ 
66Anophthalmos1+ 
67Ectodermal Dysplasia1+ 
68Congenital Abnormalities1+ 
69Ataxia1+ 
70Heart Defects, Congenital1+ 
71Microphthalmos1+ 
72Alopecia1+ 
73Cleft Lip1+ 
74Chromosome Inversion1+ 
75Sjogren-Larsson Syndrome1+ 
76Sex Chromosome Disorders1+ 
77Cerebellar Ataxia1+ 
78Retinitis Pigmentosa1+ 
79Chromosome Duplication1+ 
80Stereotypic Movement Disorder1+ 
81Polydactyly1+ 
82Mental Disorders1+ 
83Failure to Thrive1+ 
84Hypertrichosis1+ 
85Aniridia1+ 
86Malformations of Cortical Development1+ 
87Pigmentation Disorders1+ 
88Cerebral Palsy1+ 
89Monosomy1+ 
90Craniosynostoses1+ 
91Muscle Spasticity1+ 
92Lesch-Nyhan Syndrome1+ 
93Prader-Willi Syndrome1+ 
94Mouth Abnormalities1+ 
95Kallmann Syndrome1+ 
96WAGR Syndrome1+ 
97Hyperventilation1+ 
98Williams Syndrome1+ 
99Puberty, Delayed1+ 
100alpha-Thalassemia1+ 
101Laurence-Moon Syndrome1+ 
102Smith-Lemli-Opitz Syndrome1+ 
103Nervous System Malformations1+ 
104Albinism, Ocular1+ 
105Hydrocephalus1+ 
106Amino Acid Metabolism, Inborn Errors1+ 
107Aneuploidy1+ 
108Child Behavior Disorders1+ 
109Myopathies, Structural, Congenital1+ 
110Angelman Syndrome1+ 
111Atrophy1+ 
112Diseases in Twins1+ 
113Glycogen Storage Disease Type IIb1+ 

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