Delayed speech and language development, and Hepatic fibrosis

Diseases related with Delayed speech and language development and Hepatic fibrosis

In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Hepatic fibrosis that can help you solving undiagnosed cases.


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Medium match NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET; IMNEPD

NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET; IMNEPD Is also known as ;imnepd

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM UMLS ORPHANET MONDO

More info about NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET; IMNEPD

Medium match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M

gene led to a 96 to 98% reduction in DK activity.

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M Is also known as cdg im;cdgim, dolichol kinase deficiency, dk1 deficiency;cdg syndrome type im; cdg-im; cdg1m; carbohydrate deficient glycoprotein syndrome type im; congenital disorder of glycosylation type 1m; congenital disorder of glycosylation type im; dolichol kinase deficiency; hypotonia and ichthyosis due to dolichol phosphate deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET UMLS MESH OMIM MONDO SCTID GARD

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M

Medium match PEROXISOME BIOGENESIS DISORDER 1B; PBD1B

Peroxisome biogenesis disorder-1B (PBD1B) is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders (PBDs). Initial presentation and natural history varies, with many children presenting as newborns, whereas others do not come to attention until later. Most affected children have hypotonia, but unlike Zellweger syndrome (see PBD1A, {214100}) there is a degree of psychomotor development, and some patients achieve head control, sit unsupported, and may even walk independently. Many can communicate, and although language is rare, there have been children who have near normal language for age. Craniofacial anomalies are similar to but less pronounced than in Zellweger syndrome. In some individuals a leukodystrophy develops, with degeneration of myelin, loss of previously acquired skills, and development of spasticity; this may stabilize, or progress and be fatal. In PBD1B, the most common manifestations that are less apparent in ZS are sensorineural hearing loss and retinitis pigmentosa (summary by Steinberg et al., 2006). While Zellweger syndrome usually results in death in the first year of life, children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).Individuals with mutations in the PEX1 gene have cells of complementation group 1 (CG1, equivalent to CGE). For information on the history of PBD complementation groups, see {214100}. Genetic Heterogeneity of Peroxisome Biogenesis Disorder NALD/IRDThe phenotypic spectrum of NALD/IRD peroxisome biogenesis disorders can be caused by mutation in members of the peroxin (PEX) gene family. The PEX genes encode proteins essential for the assembly of functional peroxisomes (summary by Distel et al., 1996). PBD1B is caused by mutation in the PEX1 gene on chromosome 7q21; PBD2B (OMIM ) is caused by mutation in the PEX5 gene (OMIM ) on chromosome 12p13.3; PBD3B (OMIM ) is caused by mutation in the PEX12 gene (OMIM ) on chromosome 17; PBD4B (OMIM ) is caused by mutation in the PEX6 gene (OMIM ) on chromosome 6p21.1; PBD5B (OMIM ) is caused by mutation in the PEX2 gene (OMIM ) on chromosome 8q21.1; PBD6B (OMIM ) is caused by mutation in the PEX10 gene (OMIM ) on chromosome 1p36.32; PBD7B (OMIM )is caused by mutation in the PEX26 gene (OMIM ) on chromosome 22q11.21; PBD8B (OMIM ) is caused by mutation in the PEX16 gene (OMIM ) on chromosome 11p11; PDB10B (OMIM ) is caused by mutation in the PEX3 gene (OMIM ) on chromosome 6q24; and PBD11B (OMIM ) is caused by mutation in the PEX13 gene (OMIM ) on chromosome 2p15.See PBD1A (OMIM ) for a phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, which is also caused by mutation in peroxin genes. The rhizomelic chondrodysplasia subtype of PBD (RCDP1, PBD9; {215100}), and a mild PBD without rhizomelia (PBD9B ), are caused by mutation in the PEX7 gene (OMIM ) on chromosome 6q23.

PEROXISOME BIOGENESIS DISORDER 1B; PBD1B Is also known as peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile refsum disease), peroxisome biogenesis disorder (nald/ird), adrenoleukodystrophy, autosomal neonatal, refsum disease, infantile, infantile phytanic acid storage disease;ird

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: ORPHANET OMIM

More info about PEROXISOME BIOGENESIS DISORDER 1B; PBD1B

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Medium match BARDET-BIEDL SYNDROME 1; BBS1

Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism (summary by Beales et al., 1999). Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia (summary by Scheidecker et al., 2014). Genetic Heterogeneity of Bardet-Biedl SyndromeBBS1 is caused by mutation in a gene on chromosome 11q13 (OMIM ); BBS2 (OMIM ), by mutation in a gene on 16q13 (OMIM ); BBS3 (OMIM ), by mutation in the ARL6 gene on 3q11 (OMIM ); BBS4 (OMIM ), by mutation in a gene on 15q22 (OMIM ); BBS5 (OMIM ), by mutation in a gene on 2q31 (OMIM ); BBS6 (OMIM ), by the MKKS gene on 20p12 (OMIM ), mutations in which also cause McKusick-Kaufman syndrome (OMIM ); BBS7 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS8 (OMIM ), by mutation in the TTC8 gene on 14q32 (OMIM ); BBS9 (OMIM ), by mutation in a gene on 7p14 (OMIM ); BBS10 (OMIM ), by mutation in a gene on 12q (OMIM ); BBS11 (OMIM ), by mutation in the TRIM32 gene on 9q33 (OMIM ); BBS12 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS13 (OMIM ), by mutation in the MKS1 gene (OMIM ) on 17q23, mutations in which also cause Meckel syndrome-1 (OMIM ); BBS14 (OMIM ), by mutation in the CEP290 gene (OMIM ) on 12q21, mutations in which also cause Meckel syndrome-4 (OMIM ) and several other disorders; BBS15 (OMIM ), by mutation in the C2ORF86 gene (OMIM ), which encodes a homolog of the Drosophila planar cell polarity gene 'fritz,' on 2p15; BBS16 (OMIM ), by mutation in the SDCCAG8 gene (OMIM ) on 1q43, mutations in which also cause Senior-Loken syndrome-7 (OMIM ); BBS17 (OMIM ), by mutation in the LZTFL1 gene (OMIM ) on 3p21; BBS18 (OMIM ), by mutation in the BBIP1 gene (OMIM ) on 10q25; BBS19 (OMIM ), by mutation in the IFT27 gene (OMIM ) on 22q12; BBS20 (OMIM ), by mutation in the IFT74 gene (OMIM ) on 9p21; and BBS21 (OMIM ), by mutation in the C8ORF37 gene (OMIM ).The CCDC28B gene (OMIM ) modifies the expression of BBS phenotypes in patients who have mutations in other genes. Mutations in MKS1, MKS3 (TMEM67 ), and C2ORF86 also modify the expression of BBS phenotypes in patients who have mutations in other genes.Although BBS had originally been thought to be a recessive disorder, Katsanis et al. (2001) demonstrated that clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutations in 1 of the 6 loci plus an additional mutation in a second locus. While Katsanis et al. (2001) called this 'triallelic inheritance,' Burghes et al. (2001) suggested the term 'recessive inheritance with a modifier of penetrance.' Mykytyn et al. (2002) found no evidence of involvement of the common BBS1 mutation in triallelic inheritance. However, Fan et al. (2004) found heterozygosity in a mutation of the BBS3 gene ({608845.0002}) as an apparent modifier of the expression of homozygosity of the met390-to-arg mutation in the BBS1 gene ({209901.0001}).Allelic disorders include nonsyndromic forms of retinitis pigmentosa: RP51 (OMIM ), caused by TTC8 mutation, and RP55 (OMIM ), caused by ARL6 mutation.

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Pica
  • Hearing impairment


SOURCES: OMIM UMLS DOID MESH MONDO GARD EFO

More info about BARDET-BIEDL SYNDROME 1; BBS1

Medium match JOUBERT SYNDROME 1; JBTS1

Joubert syndrome is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic 'molar tooth sign,' and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay. Other variable features include retinal dystrophy and renal anomalies (Saraiva and Baraitser, 1992; Valente et al., 2005). Genetic Heterogeneity of Joubert SyndromeSee also JBTS2 (OMIM ), caused by mutation in the TMEM216 gene (OMIM ) on chromosome 11q13; JBTS3 (OMIM ), caused by mutation in the AHI1 gene (OMIM ) on chromosome 6q23; JBTS4 (OMIM ), caused by mutation in the NPHP1 gene (OMIM ) on chromosome 2q13; JBTS5 (OMIM ), caused by mutation in the CEP290 gene, also called NPHP6 (OMIM ), on chromosome 12q21.32; JBTS6 (OMIM ), caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q21; JBTS7 (OMIM ), caused by mutation in the RPGRIP1L gene (OMIM ) on chromosome 16q12.2; JBTS8 (OMIM ), caused by mutation in the ARL13B (OMIM ) on chromosome 3q11.2; JBTS9 (OMIM ), caused by mutation in the CC2D2A gene (OMIM ) on chromosome 4p15.3; JBTS10 (OMIM ), caused by mutation in the CXORF5 gene (OMIM ) on chromosome Xp22.3; JBTS11 (see {613820}), caused by mutation in the TTC21B gene (OMIM ) on chromosome 2q24; JBTS12 (see {200990}), caused by mutation in the KIF7 gene (OMIM ) on chromosome 15q26; JBTS13 (OMIM ), caused by mutation in the TCTN1 gene (OMIM ) on chromosome 12q24; JBTS14 (OMIM ), caused by mutation in the TMEM237 gene (OMIM ) on chromosome 2q33; JBTS15 (OMIM ), caused by mutation in the CEP41 gene (OMIM ) on chromosome 7q32; JBTS16 (OMIM ), caused by mutation in the TMEM138 gene (OMIM ) on chromosome 11q; JBTS17 (OMIM ), caused by mutation in the C5ORF42 gene (OMIM ) on chromosome 5p13; JBTS18 (OMIM ), caused by mutation in the TCTN3 gene (OMIM ) on chromosome 10q24; JBTS19 (see {614844}), caused by mutation in the ZNF423 gene (OMIM ) on chromosome 16q12; JBTS20 (OMIM ), caused by mutation in the TMEM231 gene (OMIM ) on chromosome 16q23; JBTS21 (OMIM ), caused by mutation in the CSPP1 gene (OMIM ) on chromosome 8q13; JBTS22 (OMIM ), caused by mutation in the PDE6D gene (OMIM ) on chromosome 2q37; JBTS23 (OMIM ), caused by mutation in the KIAA0586 gene (OMIM ) on chromosome 14q23; JBTS24 (OMIM ), caused by mutation in the TCTN2 gene (OMIM ) on chromosome 12q24; JBTS25 (OMIM ), caused by mutation in the CEP104 gene (OMIM ) on chromosome 1p36; JBTS26 (OMIM ), caused by mutation in the KIAA0556 gene (OMIM ) on chromosome 16p12; JBTS27 (OMIM ), caused by mutation in the B9D1 gene (OMIM ) on chromosome 17p11; JBTS28 (OMIM ), caused by mutation in the MKS1 gene (OMIM ) on chromosome 17q23; JBTS29 (see {617562}), caused by mutation in the TMEM107 gene (OMIM ) on chromosome 17p13; JBTS30 (OMIM ), caused by mutation in the ARMC9 gene (OMIM ) on chromosome 2q37; JBTS31 (OMIM ), caused by mutation in the CEP120 gene (OMIM ) on chromosome 5q23; JBTS32 (OMIM ), caused by mutation in the SUFU gene (OMIM ) on chromosome 10q24; and JBTS33 (OMIM ), caused by mutation in the PIBF1 gene (OMIM ) on chromosome 13q21.

JOUBERT SYNDROME 1; JBTS1 Is also known as joubert syndrome;jbts, joubert-boltshauser syndrome, cerebelloparenchymal disorder iv;cpd4, cerebellooculorenal syndrome 1;cors1;cpd iv; cerebelloparenchymal disorder iv; classic joubert syndrome; joubert syndrome type a; joubert-boltshauser syndrome; pure joubert syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: OMIM SCTID MONDO ORPHANET DOID

More info about JOUBERT SYNDROME 1; JBTS1

Low match NEPHRONOPHTHISIS 11; NPHP11

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Growth delay
  • Nystagmus
  • Strabismus


SOURCES: OMIM MONDO UMLS DOID

More info about NEPHRONOPHTHISIS 11; NPHP11

Low match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21; SCAR21

Autosomal recessive spinocerebellar ataxia-21 is a neurologic disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in early childhood. Affected individuals also have recurrent episodes of liver failure in the first decade, resulting in chronic liver fibrosis, as well as later onset of a peripheral neuropathy. Mild learning disabilities may also occur (summary by Schmidt et al., 2015).

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21; SCAR21 Is also known as spinocerebellar ataxia, autosomal recessive 21, with hepatopathy;autosomal recessive spinocerebellar ataxia type 21; scar21

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Motor delay


SOURCES: ORPHANET UMLS DOID MONDO OMIM

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21; SCAR21

Low match JOUBERT SYNDROME 6; JBTS6

Joubert syndrome is an autosomal recessive disorder presenting with psychomotor delay, hypotonia, ataxia, oculomotor apraxia, and neonatal breathing abnormalities. Neuroradiologically, Joubert syndrome is characterized by peculiar malformation of the midbrain-hindbrain junction known as the 'molar tooth sign' (MTS) consisting of cerebellar vermis hypoplasia or aplasia, thick and maloriented superior cerebellar peduncles, and abnormally deep interpeduncular fossa (Romano et al., 2006).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: MESH DOID OMIM UMLS MONDO

More info about JOUBERT SYNDROME 6; JBTS6

Low match SENIOR-LOKEN SYNDROME 9; SLSN9

Senior-Loken syndrome-9 is an autosomal recessive disorder characterized by early-onset nephronophthisis and pigmentary retinopathy. Additional more variable features can include liver defects, skeletal anomalies, and obesity (summary by Bizet et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see {266900}.

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Nystagmus
  • Strabismus
  • Abnormality of the skeletal system


SOURCES: OMIM MONDO UMLS

More info about SENIOR-LOKEN SYNDROME 9; SLSN9

Low match MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA; MEDNIK

MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia).

MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA; MEDNIK Is also known as erythrokeratodermia variabilis 3;ekv3, erythrokeratodermia variabilis, kamouraska type;intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Pica


SOURCES: MESH DOID MONDO ORPHANET OMIM SCTID UMLS

More info about MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA; MEDNIK

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Hepatic fibrosis

Symptoms // Phenotype % cases
Autosomal recessive inheritance Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Mendelian

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Other less frequent symptoms

Patients with Delayed speech and language development and Hepatic fibrosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Ataxia

Uncommon Symptoms - Between 30% and 50% cases


Motor delay Nephronophthisis Muscular hypotonia Strabismus Hepatomegaly Peripheral neuropathy Pica Hearing impairment Growth delay Absent speech Seizures Nevus Abnormal facial shape Stage 5 chronic kidney disease Rod-cone dystrophy Polydactyly Coloboma Short stature Retinal degeneration Sensorineural hearing impairment Retinal dystrophy Ichthyosis Failure to thrive Cataract

Rare Symptoms - Less than 30% cases


Optic atrophy Cirrhosis Breathing dysregulation Elongated superior cerebellar peduncle Retinopathy Renal cyst Enlarged fossa interpeduncularis Skeletal muscle atrophy Spasticity Anteverted nares Visual impairment Epicanthus Heterogeneous Chorioretinal coloboma Tremor Iris coloboma Situs inversus totalis Aganglionic megacolon Abnormality of the eye Postaxial hand polydactyly Abnormality of eye movement Apraxia Cerebellar vermis hypoplasia Molar tooth sign on MRI Congenital hepatic fibrosis Oculomotor apraxia Foot polydactyly Obesity Renal insufficiency Tics Macrocephaly Hypogonadism High forehead Distal muscle weakness Progressive cerebellar ataxia Congenital onset Cholestasis Cerebellar atrophy Sensorimotor neuropathy Cardiomyopathy Splenomegaly Hyporeflexia Cognitive impairment Talipes equinovarus Arrhythmia Muscle weakness Midface retrusion Postnatal microcephaly Hyperkeratosis Cerebellar vermis atrophy Upslanted palpebral fissure Erythema Oral cleft Narrow forehead Open mouth Abnormal form of the vertebral bodies Diarrhea Hypoplasia of the femoral head Encephalocele Dandy-Walker malformation Heterotopia Hand polydactyly Aplasia/Hypoplasia of the corpus callosum Tubulointerstitial nephritis Macular degeneration Nephritis Pallor Macroglossia Abnormality of skin pigmentation Erythroderma Congenital sensorineural hearing impairment Scoliosis Micrognathia Ptosis Milia Low-set ears Gait disturbance Hypocupremia Hypoplasia of the corpus callosum Intrahepatic cholestasis Hydrocephalus Cerebellar hypoplasia Prominent forehead Mandibular prognathia Abnormal intestine morphology Hyperactivity Feeding difficulties in infancy Telecanthus Aggressive behavior Apnea Prominent nasal bridge Abnormality of the foot Polymicrogyria Long face Downturned corners of mouth Hypoplasia of the brainstem Highly arched eyebrow Tachypnea Thickened superior cerebellar peduncle Cephalocele Tubular basement membrane disintegration Polyuria Blindness Tubular atrophy Intellectual disability, severe Stuttering Anisocoria Generalized limb muscle atrophy Dysmetric saccades Distal lower limb muscle weakness Saccadic smooth pursuit Progressive gait ataxia Renal corticomedullary cysts Hyperreflexia Hydrometrocolpos Acute hepatic failure Fever Intellectual disability, mild Gait ataxia Hepatosplenomegaly Abnormality of the liver Distal sensory impairment Hepatic failure Paresthesia Sensory impairment Intention tremor Frequent falls Polydipsia Intellectual disability, moderate Abnormality of the skeletal system Abnormality of the hypothalamus-pituitary axis Foot dorsiflexor weakness Hyperechogenic kidneys Abnormality of neuronal migration Retinal coloboma Biparietal narrowing Occipital encephalocele Protruding tongue Retinal dysplasia Impaired smooth pursuit Optic nerve coloboma Self-mutilation Central apnea Agenesis of cerebellar vermis Anemia Abnormal pattern of respiration Abnormal saccadic eye movements Meningoencephalocele Abnormality of ocular smooth pursuit Bile duct proliferation Episodic tachypnea Dysgenesis of the cerebellar vermis Neonatal breathing dysregulation Brainstem dysplasia Hemifacial spasm Occipital myelomeningocele Abnormal retinal morphology Triangular-shaped open mouth Septate vagina Decreased testicular size Nephrogenic diabetes insipidus Abnormal isoelectric focusing of serum transferrin Inflammatory abnormality of the skin Sparse eyelashes Aspiration Severe muscular hypotonia Lipoatrophy Abnormality of coagulation Epileptic spasms Myocarditis Aplasia/Hypoplasia of the nipples Adactyly Hypoketotic hypoglycemia Ketotic hypoglycemia Wide nasal bridge Hypsarrhythmia Behavioral abnormality Osteoporosis Acidosis Jaundice Facial palsy Neonatal hypotonia Respiratory tract infection Postnatal growth retardation Nyctalopia Congenital cataract Dolichocephaly Convex nasal ridge Esotropia Sparse and thin eyebrow Recurrent pneumonia Large fontanelles Shawl scrotum Microcephaly Hypertelorism Flexion contracture Progressive Brachycephaly Hypothyroidism Thin upper lip vermilion Hip dislocation Decreased fetal movement Exotropia Progressive microcephaly Proximal placement of thumb Steatorrhea Exocrine pancreatic insufficiency Tetraplegia Ankle contracture Pancreatic fibrosis Myopathy Congestive heart failure Dilatation Cerebral cortical atrophy Alopecia Elevated hepatic transaminase Hypoglycemia Myalgia Dilated cardiomyopathy Dry skin Death in infancy Abnormality of epiphysis morphology Abnormality of the face Biliary tract abnormality Clubbing Hirsutism Hypodontia Postaxial polydactyly Specific learning disability Amenorrhea Pigmentary retinopathy Primary amenorrhea Asthma Dental crowding Left ventricular hypertrophy Bicuspid aortic valve Radial deviation of finger Anosmia Truncal obesity Paraplegia Hypoplasia of the uterus External genital hypoplasia Tricuspid regurgitation Macular dystrophy Broad foot Undetectable electroretinogram Menstrual irregularities Poor coordination Tapetoretinal degeneration Microphallus Vaginal atresia Gait imbalance Abnormality of the ovary Astigmatism High, narrow palate Nephrolithiasis Renal atrophy Leukodystrophy Progressive muscle weakness Constriction of peripheral visual field Spinal muscular atrophy Impulsivity Epiphyseal stippling Severe hearing impairment Polar cataract Hypocholesterolemia Very long chain fatty acid accumulation Hyperoxaluria Progressive spinal muscular atrophy Elevated levels of phytanic acid Cryptorchidism Short foot High palate Brachydactyly Hypertension Myopia Syndactyly Micropenis Glaucoma Diabetes mellitus Abnormality of the genital system Reduced visual acuity Neurological speech impairment Abnormality of the kidney Pulmonic stenosis Decreased serum ceruloplasmin


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