Ataxia, and Microdontia

Diseases related with Ataxia and Microdontia

In the following list you will find some of the most common rare diseases related to Ataxia and Microdontia that can help you solving undiagnosed cases.


Top matches:

Low match USHER SYNDROME TYPE 2


Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by sensorineural hearing deficiencies at birth and later development of progressive retinitis pigmentosa (RP). It is the most frequent cause of combined deafness and blindness in adults and affects 3 to 6% of children born with hearing impairment. In brief, patients with Usher syndrome type II have mild hearing impairment with normal vestibular responses. Type II is the most common of the 3 Usher syndromes (Eudy et al., 1998).See {276900} for clinical characterization of Usher syndrome types I, II, and III.For a discussion of genetic heterogeneity of Usher syndrome type II, see USH2A (OMIM ).

USHER SYNDROME TYPE 2 Is also known as ush2

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about USHER SYNDROME TYPE 2

Low match MUCOLIPIDOSIS TYPE IV


Mucolipidosis type IV (ML IV) is a lysosomal storage disease characterised clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus.

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about MUCOLIPIDOSIS TYPE IV

Low match XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF


Xeroderma pigmentosum is an autosomal recessive disorder characterized by sun sensitivity and increased skin sensitivity to UV light, as well as an increased risk of skin cancer associated with a defect in nucleotide excision repair (NER). The XPF form of XP is usually relatively mild compared to other forms. Patients with XPF tend to have later onset of skin cancer. Some patients with XPF may develop neurologic impairment or growth defects, and are then classified as having Cockayne syndrome (summary by Kashiyama et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of xeroderma pigmentosa, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ).

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF Is also known as xp6|xp, group f|xeroderma pigmentosum vi

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF

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Other less relevant matches:

Low match TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1


Trichorhinophalangeal syndrome type I is a malformation syndrome characterized by distinctive craniofacial and skeletal abnormalities and is inherited as an autosomal dominant (Momeni et al., 2000). TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature.

TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1 Is also known as trps i

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1

Low match WRINKLY SKIN SYNDROME


Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism).

WRINKLY SKIN SYNDROME Is also known as wrinkled skin syndrome|wss

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about WRINKLY SKIN SYNDROME

Low match SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9 Is also known as mzsds|mainzer-saldino syndrome|renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia|conorenal syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9

Low match OCULODENTODIGITAL DYSPLASIA


Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.

OCULODENTODIGITAL DYSPLASIA Is also known as meyer-schwickerath syndrome|odd syndrome|oculodentoosseous dysplasia|odod|oddd syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA

Low match AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1


Axenfeld-Rieger syndrome is an autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals (Fitch and Kaback, 1978). Systemic anomalies are associated, including dental hypoplasia, failure of involution of periumbilical skin, and maxillary hypoplasia (Alkemade, 1969). Genetic Heterogeneity of Axenfeld-Rieger SyndromeLinkage studies indicate that a second type of Axenfeld-Rieger syndrome maps to chromosome 13q14 (RIEG2 ). A third form of Axenfeld-Rieger syndrome (RIEG3 ) is caused by mutation in the FOXC1 gene (OMIM ) on chromosome 6p25.See {109120} for a form of Axenfeld-Rieger syndrome associated with partially absent eye muscles, hydrocephalus, and skeletal abnormalities.

AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1 Is also known as rieger syndrome, type 1|rgs|rieg

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1

Low match WILLIAMS SYNDROME


Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Low match CORNELIA DE LANGE SYNDROME 1; CDLS1


The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Top 5 symptoms//phenotypes associated to Ataxia and Microdontia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Ataxia and Microdontia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Scoliosis

Uncommon Symptoms - Between 30% and 50% cases


Wide nasal bridge Abnormality of the dentition Hernia Umbilical hernia Micrognathia Global developmental delay Strabismus Hypertelorism Carious teeth Long philtrum Abnormality of the skeletal system Glaucoma Seizures Growth delay Smooth philtrum Delayed eruption of teeth Inguinal hernia Myopia Intrauterine growth retardation Visual loss Cataract Sensorineural hearing impairment Epicanthus Abnormal facial shape Clinodactyly of the 5th finger Brachydactyly Dysarthria Depressivity Ptosis Generalized hypotonia Ventricular septal defect Cleft palate High forehead Craniosynostosis Delayed skeletal maturation Recurrent urinary tract infections Abnormality of dental enamel Thin upper lip vermilion Depressed nasal bridge Infantile muscular hypotonia Failure to thrive Cryptorchidism High palate Delayed speech and language development Kyphosis Syndactyly Blindness Visual impairment Hip dislocation Cutis laxa Sparse hair Low-set, posteriorly rotated ears Pes planus Cognitive impairment Osteopenia Proteinuria Widely spaced teeth Mandibular prognathia Feeding difficulties Muscular hypotonia Hyperreflexia Gait disturbance Behavioral abnormality Everted lower lip vermilion Microcornea Anemia Atrial septal defect Hypertension Conductive hearing impairment Renal insufficiency

Rare Symptoms - Less than 30% cases


Fragile nails Telecanthus Slurred speech Increased body weight Wide anterior fontanel High myopia Broad nasal tip Hypodontia Short nose Clinodactyly Postnatal growth retardation Joint laxity Kyphoscoliosis Pectus excavatum Hydrocephalus Vesicoureteral reflux Hypertrophic cardiomyopathy Choanal atresia Abnormality of dental morphology Megalocornea Talipes equinovarus Posterior embryotoxon Macrocephaly Renal hypoplasia Hypertonia Low-set ears Abnormal heart morphology Otitis media Autism Hypospadias Incoordination Spasticity Polydactyly Optic atrophy Muscle weakness Gastroesophageal reflux Blepharophimosis Narrow forehead Macroglossia Renal cyst Oral cleft Scarring Abnormality of the pinna Wide mouth Abnormality of the kidney Cleft lip Toe syndactyly Small for gestational age Camptodactyly Sleep disturbance Upslanted palpebral fissure Cleft upper lip Anteverted nares Hypotelorism Abnormal form of the vertebral bodies Hypoplasia of dental enamel Prominent forehead Pneumonia Short neck Hypoglycemia Reduced number of teeth High hypermetropia Autistic behavior Abnormality of the fingernails Pulmonic stenosis Tremor Macrotia Dental malocclusion Paraplegia Hypotrichosis Spastic paraplegia Stroke Protruding ear Absent speech Coarse facial features Photophobia Flexion contracture Arthralgia Posteriorly rotated ears Sparse scalp hair Corneal opacity Recurrent respiratory infections Pain Palmoplantar keratoderma Progressive cerebellar ataxia Astigmatism Attention deficit hyperactivity disorder Abnormality of the nervous system Deeply set eye Hyperactivity Neoplasm Fine hair Hyperlordosis Scapular winging Cone-shaped epiphysis Slow-growing hair Schizophrenia Anxiety Aplasia/Hypoplasia of the cerebellum Cerebral cortical atrophy Pseudohypoparathyroidism Abnormal electroretinogram Deep philtrum Rod-cone dystrophy Short metatarsal Celiac disease Pulmonary artery stenosis Poor coordination Soft skin Nevus flammeus Arnold-Chiari type I malformation Abnormality of lipid metabolism Insomnia Restlessness Facial cleft Absent hand Prematurely aged appearance Abnormality of the voice Vertebral segmentation defect Full cheeks Nephritis Premature graying of hair Hallux valgus Loss of consciousness Polyuria Chronic otitis media Glucose intolerance Tracheoesophageal fistula Obsessive-compulsive behavior Hypoplastic toenails Unilateral renal agenesis Open bite Gastroparesis Abnormality of the vasculature Abnormality of the cerebral vasculature Periorbital fullness Gait imbalance Abnormality of refraction Joint hyperflexibility Dysmetria Thick vermilion border Cerebral ischemia Peters anomaly Dyslexia Short sternum Villous atrophy Enuresis Postural instability Perimembranous ventricular septal defect Patellar dislocation Abnormality of the neck Large earlobe Hand oligodactyly Tubulointerstitial nephritis Phocomelia Right ventricular hypertrophy Chronic constipation Hypoplasia of the zygomatic bone Blue irides Vocal cord paralysis Supernumerary ribs Down-sloping shoulders Multiple renal cysts Precocious puberty Portal hypertension Cholelithiasis Radioulnar synostosis Thick lower lip vermilion Gingival overgrowth Amblyopia Left-to-right shunt Projectile vomiting Nephrolithiasis Renal agenesis Involuntary movements Mitral regurgitation Open mouth Recurrent otitis media Hemiparesis Myocardial infarction Dehydration Duplication of internal organs Aortic valve stenosis Small nail Malrotation of colon Otitis media with effusion Tetralogy of Fallot Ventricular hypertrophy Type II diabetes mellitus Abnormality of the cardiovascular system Hypsarrhythmia Cardiomegaly Coarctation of aorta Abnormality of extrapyramidal motor function Mitral valve prolapse Reduced renal corticomedullary differentiation Hypertropia Hoarse voice Failure to thrive in infancy Abnormality of the umbilicus Hypercalcemia Redundant skin Hypoplasia of penis Hypercalciuria Dysphonia Sudden cardiac death Polycystic ovaries Chest pain Abnormality of pelvic girdle bone morphology Hypoplastic radial head Adducted thumb Reduced bone mineral density Arnold-Chiari malformation Ischemic stroke Esophageal stenosis Sacral dimple Bicuspid aortic valve Progressive hearing impairment Abnormal dermatoglyphics Spina bifida occulta Nephrocalcinosis Hemivertebrae Curly eyelashes Hypoplastic male external genitalia Esotropia Hypogonadotrophic hypogonadism Pointed chin Increased bone mineral density Narrow face Blue sclerae Lacrimation abnormality Decreased plasma carnitine Functional abnormality of male internal genitalia Proptosis Narrow mouth Brachycephaly Hyperhidrosis Severe short stature Thrombocytopenia Headache Vomiting Intellectual disability, severe Cardiomyopathy Fever Atrophy/Degeneration involving the corticospinal tracts Vocal cord dysfunction Descending aorta hypoplasia Stellate iris Proximal placement of thumb Dyssynergia Early onset of sexual maturation Overfriendliness Nystagmus-induced head nodding Thyroid hemiagenesis Bilateral vocal cord paralysis Elfin facies Medial flaring of the eyebrow Abnormality of the diencephalon Abnormal carotid artery morphology Paroxysmal bursts of laughter Myxomatous mitral valve degeneration Unilateral renal hypoplasia Genu valgum Retrognathia Aggressive behavior Clubbing Elbow flexion contracture Webbed neck Sepsis Triangular face Tapered finger Single transverse palmar crease Highly arched eyebrow Small hand High, narrow palate Downturned corners of mouth Low posterior hairline Hypertrichosis Long eyelashes Aspiration Low anterior hairline Hirsutism Respiratory tract infection Self-injurious behavior Pallor Prominent nasal bridge Synophrys Micromelia Vertigo Thin vermilion border Pyloric stenosis Spontaneous abortion Abnormality of the urinary system Hypoplasia of the radius Thick eyebrow Relative macrocephaly Pulmonary hypoplasia Torticollis Impaired visuospatial constructive cognition Supravalvular aortic stenosis Panhypopituitarism Peptic ulcer Aplasia/Hypoplasia of the iris Abnormal endocardium morphology Thyroid hypoplasia Retinal vascular tortuosity Increased nuchal translucency Abnormal glucose tolerance Urethral stenosis Parathyroid hyperplasia Phonophobia Abnormality of nervous system morphology Dysgraphia Arterial stenosis Rectal prolapse Periorbital edema Cystic renal dysplasia Colonic diverticula Bladder diverticulum Hiatus hernia Aspiration pneumonia Esophagitis Hypoplastic labia majora Abnormality of the gastrointestinal tract Optic nerve coloboma Congenital diaphragmatic hernia Abnormal renal morphology Subvalvular aortic stenosis Thick upper lip vermilion Peripheral pulmonary artery stenosis Recurrent hypoglycemia Volvulus Renal duplication Vascular tortuosity Flat cornea Pelvic kidney Abnormal social behavior Renovascular hypertension Tricuspid regurgitation Cutis marmorata Short middle phalanx of finger Abnormality of the gastric mucosa 2-3 toe syndactyly Ectopic kidney Opisthotonus Limited elbow extension Abnormality of digit Infantile hypercalcemia Weak cry Food intolerance Hyperacusis Abnormality of the ankles Nocturia Poor appetite Tubulointerstitial abnormality Overriding aorta Aortic arch aneurysm Obsessive-compulsive trait Ectrodactyly Synostosis of joints Retinal arteriolar tortuosity Oligodactyly Abnormality of the bladder Hypoplastic nipples Dislocated radial head Renal artery stenosis Coronary artery stenosis Calcification of the aorta Retinal dysplasia Malabsorption Emphysema Palmoplantar cutis laxa Abnormal isoelectric focusing of serum transferrin Short nail Deep plantar creases Excessive wrinkled skin Hypoplasia of the musculature Recurrent sinopulmonary infections Delayed closure of the anterior fontanelle Deep palmar crease Generalized joint laxity Premature skin wrinkling Slender long bone Delayed cranial suture closure Decreased muscle mass Lipodystrophy Prominent nasolabial fold Nasal speech Coxa vara Wormian bones Congenital hip dislocation Progressive microcephaly Cerebellar vermis hypoplasia Status epilepticus Dandy-Walker malformation Joint hypermobility Dilatation Downslanted palpebral fissures Motor delay Ivory epiphyses of the distal phalanges of the hand Swelling of proximal interphalangeal joints Premature rupture of membranes Prominent veins on trunk Chin with horizontal crease Skeletal dysplasia Short ribs Hepatic fibrosis Exotropia Short phalanx of finger Renal dysplasia Cholestasis Bifid uvula Nephropathy Retinal dystrophy Postaxial polydactyly Short distal phalanx of finger Abnormality of skin pigmentation Retinal degeneration Stage 5 chronic kidney disease Hypoplasia of the corpus callosum Abnormality of the intrinsic pathway Respiratory insufficiency Frontal bossing Hepatomegaly Neonatal wrinkled skin of hands and feet High nonceruloplasmin-bound serum copper Small, conical teeth Excessive skin wrinkling on dorsum of hands and fingers Multiple plantar creases Fragmented elastic fibers in the dermis Slender long bones with narrow diaphyses Multiple palmar creases Atrial septal dilatation Thick cerebral cortex Abnormality of the cheek Cone-shaped epiphyses of the proximal phalanges of the hand Accelerated bone age after puberty Short femoral neck Developmental stagnation Prominent nose Delayed myelination Chorea Brain atrophy Muscle cramps Papule Erythema Dementia Cerebral atrophy Cerebellar atrophy Abnormality of ganglioside metabolism Abnormality of mucopolysaccharide metabolism Abnormal nasal morphology Aplasia/Hypoplasia of the abdominal wall musculature Genu recurvatum Decreased body weight Biparietal narrowing Abnormality of retinal pigmentation Retinopathy EEG abnormality Abnormality of the inner ear Mild hearing impairment Abnormality of dental color Subcortical cerebral atrophy Hemianopia Iris hypopigmentation Scotoma Vestibular dysfunction Hallucinations Nyctalopia Cutaneous photosensitivity Cafe-au-lait spot Coxa magna Narrow palate Abnormally low-pitched voice Cone-shaped epiphyses of the middle phalanges of the hand Pear-shaped nose Thin nail Flat capital femoral epiphysis Leukonychia Thin eyebrow Concave nail Spastic ataxia Avascular necrosis of the capital femoral epiphysis Spondylolisthesis Sparse lateral eyebrow Progressive spastic paraplegia Short finger Osteoarthritis Bone marrow hypocellularity Short metacarpal Bulbous nose Pectus carinatum Hypogonadism Alopecia Numerous pigmented freckles Seborrheic keratosis Cholangiocarcinoma Defective DNA repair after ultraviolet radiation damage Morphological abnormality of the central nervous system Verrucae Tubular atrophy Freckling Neoplasm of the skin Trigonocephaly Short thorax Nausea and vomiting Hyperintensity of cerebral white matter on MRI Anal stenosis Myotonia Prominent supraorbital ridges Growth hormone deficiency Hypoplasia of the maxilla Confusion Anal atresia Short philtrum Thin anteverted nares Vertebral hyperostosis 4-5 finger syndactyly Abnormality iris morphology Tooth abscess 3-4 toe syndactyly Optic nerve dysplasia Hypoplasia of the iris Aplasia/Hypoplasia of the middle phalanges of the hand Joint contracture of the 5th finger Cranial hyperostosis Madelung deformity Broad alveolar ridges Progressive spastic paraparesis Narrow nasal ridge Abnormal diaphysis morphology Premature loss of primary teeth Selective tooth agenesis Broad columella Trichorrhexis nodosa Short middle phalanx of the 5th finger Dry hair Aniridia Anterior synechiae of the anterior chamber Abnormality of the nose Cerebellar hypoplasia Neurological speech impairment Broad forehead Abnormal cardiac septum morphology Joint stiffness Paralysis Irritability Developmental regression Feeding difficulties in infancy Intellectual disability, moderate Hypothyroidism Micropenis Abdominal pain Diabetes mellitus Osteoporosis Constipation Abnormality of the abdominal wall Elevated serum creatine phosphokinase Patent ductus arteriosus Obesity Midface retrusion Malar flattening Intellectual disability, mild Congestive heart failure Myopathy Respiratory distress Abnormally prominent line of Schwalbe Axenfeld anomaly Bilateral choanal atresia Polycoria Rieger anomaly Neurogenic bladder Abnormal cortical bone morphology Nephronophthisis Short proximal phalanx of finger Cerebral calcification Overgrowth Underdeveloped nasal alae Flat face Paresthesia Abnormality of the cerebral white matter Finger syndactyly Camptodactyly of finger Abnormality of the eye Arrhythmia Abnormality of cardiovascular system morphology Microphthalmia Edema Absence of renal corticomedullary differentiation Aplasia of the middle phalanx of the hand Short palpebral fissure Frontal upsweep of hair Accessory oral frenulum Pyelonephritis Hypoplasia of the capital femoral epiphysis Pancreatic cysts Congenital hepatic fibrosis Cholangitis Thoracic dysplasia Cone-shaped epiphyses of the phalanges of the hand Recurrent lower respiratory tract infections Scaphocephaly Prominent metopic ridge Acute kidney injury Abnormal retinal morphology Tetraparesis Abnormality of the metaphysis Short hallux Progressive spasticity Mild global developmental delay Low hanging columella Taurodontia Abnormality of the clavicle Hypoparathyroidism Narrow nose Median cleft lip External ear malformation Premature loss of teeth Hyperactive deep tendon reflexes Curly hair Basal ganglia calcification Metaphyseal dysplasia Narrow nasal bridge Abnormality of the ear Dental crowding Non-midline cleft lip Hyperostosis Preaxial hand polydactyly Cubitus valgus Hand polydactyly Brittle hair Preaxial polydactyly Bilateral ptosis Abnormality of vision Spastic tetraparesis Spastic paraparesis Paraparesis Abnormality of the nail Lymphedema Dysplastic tricuspid valve



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