X-linked intellectual deficit - hypotonic face

General Information (adopted from Orphanet):

Synonyms, Signs: CHUDLEY-LOWRY SYNDROME
XLMR-HYPOTONIC FACIES SYNDROME
MRXHF1
SMITH-FINEMAN-MYERS SYNDROME 1
HOLMES-GANG SYNDROME
JUBERG-MARSIDI SYNDROME
CARPENTER-WAZIRI SYNDROME
MENTAL RETARDATION, X-LINKED, WITH GROWTH RETARDATION, DEAFNESS, AND MICROGENITALISM
SFMS
JMS
SFM1
Number of Symptoms 97
OrphanetNr: 73220
OMIM Id: 309580
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: ATR-X-related syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000076) Vesicoureteral reflux 94 / 7739
2
 (HPO:0000135) Hypogonadism 89 / 7739
3
 (HPO:0000028) Cryptorchidism 347 / 7739
4
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
5
 (HPO:0000104) Renal agenesis 68 / 7739
6
 (HPO:0000046) Scrotal hypoplasia 54 / 7739
7
 (HPO:0000047) Hypospadias 250 / 7739
8
 (HPO:0000054) Micropenis 257 / 7739
9
 (HPO:0008734) Decreased testicular size Frequent [Orphanet] 105 / 7739
10
 (HPO:0010958) Bilateral renal agenesis 16 / 7739
11
 (HPO:0000089) Renal hypoplasia 78 / 7739
12
 (HPO:0002307) Drooling 43 / 7739
13
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
14
 (HPO:0000158) Macroglossia 119 / 7739
15
 (HPO:0000582) Upslanted palpebral fissure 185 / 7739
16
 (HPO:0000268) Dolichocephaly 144 / 7739
17
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
18
 (HPO:0002162) Low posterior hairline Occasional [Orphanet] 88 / 7739
19
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
20
 (HPO:0001566) Widely-spaced maxillary central incisors 15 / 7739
21
 (HPO:0000341) Narrow forehead Very frequent [Orphanet] 96 / 7739
22
 (HPO:0000272) Malar flattening 277 / 7739
23
 (HPO:0000316) Hypertelorism 644 / 7739
24
 (HPO:0000470) Short neck 345 / 7739
25
 (HPO:0000280) Coarse facial features 189 / 7739
26
 (HPO:0010806) U-Shaped upper lip vermilion 18 / 7739
27
 (HPO:0000347) Micrognathia 426 / 7739
28
 (HPO:0000188) Short upper lip 8 / 7739
29
 (HPO:0000286) Epicanthus 371 / 7739
30
 (HPO:0000431) Wide nasal bridge 290 / 7739
31
 (HPO:0010808) Protruding tongue 28 / 7739
32
 (HPO:0000154) Wide mouth Occasional [Orphanet] 137 / 7739
33
 (HPO:0000179) Thick lower lip vermilion 72 / 7739
34
 (HPO:0000194) Open mouth 70 / 7739
35
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
36
 (HPO:0000451) Triangular nasal tip 8 / 7739
37
 (HPO:0010804) Tented upper lip vermilion Very frequent [Orphanet] 47 / 7739
38
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
39
 (HPO:0011800) Midface retrusion 221 / 7739
40
 (HPO:0000218) High palate 356 / 7739
41
 (HPO:0000577) Exotropia 43 / 7739
42
 (HPO:0000486) Strabismus 576 / 7739
43
 (HPO:0000648) Optic atrophy 238 / 7739
44
 (HPO:0000508) Ptosis 459 / 7739
45
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
46
 (HPO:0008551) Microtia 98 / 7739
47
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
48
 (HPO:0000369) Low-set ears 372 / 7739
49
 (HPO:0010864) Intellectual disability, severe 120 / 7739
50
 (HPO:0001347) Hyperreflexia 363 / 7739
51
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
52
 (HPO:0006895) Lower limb hypertonia 4 / 7739
53
 (HPO:0006887) Intellectual disability, progressive 68 / 7739
54
 (HPO:0001250) Seizures 35% [HPO:probinson] 1245 / 7739
55
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
56
 (HPO:0000708) Behavioral abnormality Frequent [Orphanet] 212 / 7739
57
 (HPO:0000749) Paroxysmal bursts of laughter 8 / 7739
58
 (HPO:0000752) Hyperactivity 140 / 7739
59
 (HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
60
 (HPO:0001182) Tapered finger 93 / 7739
61
 (HPO:0001763) Pes planus 176 / 7739
62
 (HPO:0001238) Slender finger 23 / 7739
63
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
64
 (HPO:0001762) Talipes equinovarus 309 / 7739
65
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
66
 (HPO:0002751) Kyphoscoliosis 131 / 7739
67
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
68
 (HPO:0100490) Camptodactyly of finger Occasional [Orphanet] 212 / 7739
69
 (HPO:0002857) Genu valgum Frequent [Orphanet] 144 / 7739
70
 (HPO:0001884) Talipes calcaneovalgus 14 / 7739
71
 (HPO:0009466) Radial deviation of finger 101 / 7739
72
 (HPO:0002019) Constipation 194 / 7739
73
 (HPO:0002013) Vomiting 191 / 7739
74
 (HPO:0002020) Gastroesophageal reflux 101 / 7739
75
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
76
 (HPO:0001513) Obesity Frequent [Orphanet] 172 / 7739
77
 (HPO:0001510) Growth delay 295 / 7739
78
 (HPO:0001871) Abnormality of blood and blood-forming tissues 37 / 7739
79
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
80
 (OMIM) Everted ears 7 / 7739
81
 (OMIM) Small philtrum 7 / 7739
82
 (OMIM) Gut dysmotility 7 / 7739
83
 (OMIM) Absence of Hb H inclusions in red blood cells 7 / 7739
84
 (OMIM) Slender, tapering fingers 7 / 7739
85
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
86
 (OMIM) Self-absorbed 7 / 7739
87
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
88
 (HPO:0003812) Phenotypic variability 129 / 7739
89
 (OMIM) Hypertonia of lower limbs, later 7 / 7739
90
 (OMIM) Repetitive, self-stimulatory behavior using upper limbs 7 / 7739
91
 (MedDRA:10072883) Brachydactyly 153 / 7739
92
 (OMIM) Fingers in mouth 7 / 7739
93
 (OMIM) Short, thin upper lip 7 / 7739
94
 (OMIM) Hyperfolded ears 7 / 7739
95
 (OMIM) Clinodactyly of isolated digits 8 / 7739
96
 (OMIM) Mental retardation, severe, profound 7 / 7739
97
 (OMIM) Obesity, mild (less common) 8 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The term 'X-linked mental retardation-hypotonic facies syndrome' comprises several syndromes previously reported separately. These include Juberg-Marsidi, Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes as well as 1 family with X-linked mental retardation with spastic paraplegia. All these syndromes were found ...
Clinical Description OMIM Smith et al. (1980) described 2 brothers with a combination of mental retardation, microcephaly, short stature, and unusual facial appearance, including slanted palpebral fissures, narrow face with maxillary overjet, alternating exotropia, and ptosis. Muscle tone was hypotonic, but ...
Molecular genetics OMIM In 1 surviving affected member and many heterozygous carriers of a family previously reported by Mattei et al. (1983) as having Juberg-Marsidi syndrome, Villard et al. (1996) identified a mutation in the ATRX gene (300032.0011).

In ...